Varaico: Literature-Extracted Genetic Variants

Gene:ENAH
Variant:p.L238V

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.L238V
c.712C>G
Surrounding Variants
1 paper
NM_018212.6
p.E236D
c.708G>T
1 paper
NM_018212.6
p.E236D
c.708G>C
1 paper
NM_018212.6
p.R240Q
c.719G>A
1 paper
NM_018212.6
p.E236_R242del0
c.708_725del18
1 paper
NM_018212.6
p.R229I
c.686G>T
1 paper
NM_018212.6
p.R221_R226del0
c.662_676del15
1 paper
NM_018212.6
p.Q250*
c.748C>T
1 paper
NM_018212.6
p.L251V
c.751T>G
1 paper
NM_018212.6
p.E217_D223del7
c.649_668del21
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
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