Varaico: Literature-Extracted Genetic Variants

Gene:ENAH
Variant:p.L204R

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
2 papers
NM_018212.6
p.L204R
c.611T>G
Surrounding Variants
1 paper
NM_018212.6
p.R209fs
c.625_626fs
1 paper
NM_018212.6
p.E199E
c.597A>G
1 paper
NM_018212.6
p.R195fs
c.583_584fs
1 paper
NM_018212.6
p.E208_Q213delFs
c.624_639del16
1 paper
NM_018212.6
p.E214fs
c.640_641fs
1 paper
NM_018212.6
p.E214delFs
c.641_642delTT
1 paper
NM_018212.6
p.E217D
c.651G>T
1 paper
NM_018212.6
p.E217D
c.651G>C
1 paper
NM_018212.6
p.R218R
c.652C>A
1 paper
NM_018212.6
p.Q219L
c.656A>T
1 paper
NM_018212.6
p.E220E
c.660A>G
1 paper
NM_018212.6
p.R221S
c.661C>A
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