Varaico: Literature-Extracted Genetic Variants

Gene:ENAH

ENAH

99 papers

RefSeq Summary

This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly ...

Pfam Domains

WH1aa 1–108UCSCWH1 domain
VASP_tetraaa 552–587UCSCVASP tetramerisation domain

Gene Aliases

HGNC Name

ENAH actin regulator

HGNC Alias Symbols

FLJ10773; NDPP1; MENA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
7 papers
NM_018212.6
p.E217_D223del0
c.651_668del18
3 papers
NM_018212.6
p.M1insFs
c.2_3insG
3 papers
NM_018212.6
p.T550P
c.1648A>C
2 papers
NM_018212.6
p.Y16_P25delFs
c.46_74del29
2 papers
NM_018212.6
p.L204R
c.611T>G
2 papers
NM_018212.6
p.D223ins6
c.668_669ins18
2 papers
NM_018212.6
p.E217_D223ins2
c.651_668dup18
2 papers
NM_018212.6
p.D223E
c.669T>G
2 papers
NM_018212.6
p.D223E
c.669T>A
2 papers
NM_018212.6
p.A267V
c.800C>T
2 papers
NM_018212.6
p.P352insFs
c.1054_1055insA
1 paper
NM_018212.6
p.M1V
c.1A>G
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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."