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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENAH

Variant:p.S567*

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:225497788 G>C

NM_018212.6

p.S567*

c.1700C>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a83 overlapping SVs

Surrounding Variants

1 paper

chr1:225497788 G>T

NM_018212.6

p.S567*

c.1700C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a83 overlapping SVs

1 paper

chr1:225497780 C>T

NM_018212.6

p.A570T

c.1708G>A

Exome: 0.0% (AC=608, hom=3)Genome: 0.4% (AC=628, hom=7)83 overlapping SVs

1 paper

chr1:225497811 T>G

NM_018212.6

p.A559A

c.1677A>C

VASP_tetra

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=2, hom=0)83 overlapping SVs

3 papers

chr1:225498374 T>G

NM_018212.6

p.T550P

c.1648A>C

VASP_tetra

exact variant not in gnomAD83 overlapping SVs

1 paper

chr1:225498389 T>C

NM_018212.6

p.M545V

c.1633A>G

VASP_tetra

exact variant not in gnomAD83 overlapping SVs

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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."