| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4000 |
Name | LMNA |
Synonymous | CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|PRO1;lamin A/C;LMNA;lamin A/C |
Definition | 70 kDa lamin|lamin A/C-like 1|prelamin-A/C|renal carcinoma antigen NY-REN-32 |
Position | 1q22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for LMNA | ||
PCGP somatic mutation [Top] | ||
There is no record for LMNA | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1027C>T; p.R343W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.752A>G; p.Q251R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.356+2T>C; p.?; |
pancreas | carcinoma; acinar_carcinoma |
c.892C>T; p.R298C; |
large_intestine; colon | carcinoma |
c.1147G>A; p.E383K; |
large_intestine; colon | carcinoma |
c.1901G>T; p.G634V; |
large_intestine; colon | carcinoma |
c.811-3C>A; p.?; |
ovary | carcinoma; serous_carcinoma |
c.814G>T; p.D272Y; |
NS | NS |
c.372G>A; p.E124E; |
lung | carcinoma; adenocarcinoma |
c.628A>G; p.I210V; 1:154370932-154370932 |
ovary | carcinoma; serous_carcinoma |
c.1740C>A; p.N580K; |
ovary | carcinoma; serous_carcinoma |
c.887G>A; p.R296H; |
lung | carcinoma; squamous_cell_carcinoma |
c.767T>G; p.V256G; 1:154371347-154371347 |
ovary | carcinoma; serous_carcinoma |
c.216C>A; p.R72R; |
lung | carcinoma; squamous_cell_carcinoma |
c.36C>T; p.S12S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1127A>G; p.Y376C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.887G>A; p.R296H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1487C>T; p.T496M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.438C>T; p.A146A; |
breast | carcinoma |
c.991C>T; p.R331W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1201C>T; p.R401C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1444C>T; p.R482W; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1184C>T; p.S395L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.748G>A; p.A250T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.265C>A; p.R89S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1930C>T; p.R644C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.456C>G; p.L152L; |
urinary_tract; bladder | carcinoma |
c.768G>A; p.V256V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1699G>T; p.G567C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.406G>A; p.D136N; |
urinary_tract; bladder | carcinoma |
c.569G>A; p.R190Q; |
breast | carcinoma |