Varaico: Literature-Extracted Genetic Variants

Gene:ENAH
Variant:p.V15A

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.V15A
c.44T>C
Surrounding Variants
1 paper
NM_018212.6
p.S5R
c.15T>A
2 papers
NM_018212.6
p.Y16_P25delFs
c.46_74del29
1 paper
NM_018212.6
p.S29A
c.85T>G
1 paper
NM_018212.6
p.I53S
c.158T>G
1 paper
NM_018212.6
p.Q54insFs
c.161dupA
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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."