Varaico: Literature-Extracted Genetic Variants

Gene:ENAH
Variant:p.A369G

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
Selected Variant
1 paper
NM_018212.6
p.A369G
c.1106C>G
Surrounding Variants
1 paper
NM_018212.6
p.L372P
c.1115T>C
1 paper
NM_018212.6
p.L372H
c.1115T>A
1 paper
NM_018212.6
p.P363insFs
c.1088_1089ins28
1 paper
NM_018212.6
p.Q359P
c.1076A>C
1 paper
NM_018212.6
p.M382insFs
c.1145_1146ins28
2 papers
NM_018212.6
p.P352insFs
c.1054_1055insA
1 paper
NM_018212.6
p.P351P
c.1053T>C
1 paper
NM_018212.6
p.P349L
c.1046C>T
1 paper
NM_018212.6
p.P340_P341insT
c.1018_1022ins3
1 paper
NM_018212.6
p.K400insFs
c.1199_1200ins28
1 paper
NM_018212.6
p.P336S
c.1006C>T
1 paper
NM_018212.6
p.P318S
c.952C>T
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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."