Varaico: Literature-Extracted Genetic Variants

Gene:LIMA1
Variant:p.K210_I211Splc

LIMA1

42 papers

RefSeq Summary

This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spl...

Pfam Domains

LIMaa 390–446UCSCLIM domain

Gene Aliases

HGNC Name

LIM domain and actin binding 1

HGNC Alias Symbol

EPLIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016357.5
p.K210_I211Splc
c.631-2A>G
Surrounding Variants
1 paper
NM_016357.5
p.G239delFs
c.715delC
1 paper
NM_016357.5
p.E252K
c.754G>A
1 paper
NM_016357.5
p.S263*
c.788C>A
3 papers
NM_016357.5
p.K306fs
c.916_917fs
1 paper
NM_016357.5
p.E307*
c.919G>T
1 paper
NM_016357.5
p.K306_N308delFs
c.916_923del8
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."