Varaico: Literature-Extracted Genetic Variants

SOX10

603 papers

RefSeq Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded p...

Pfam Domains

Sox_Naa 12–93UCSCSox developmental protein N terminal

HMG_boxaa 104–172UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 10

HGNC Alias Symbols

DOM; WS4; WS2E; SOX-10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006941.4

p.A188V

c.563C>T

Surrounding Variants

1 paper

NM_006941.4

p.E187insFs

c.561dupG

35 papers

NM_006941.4

p.E189*

c.565G>T

1 paper

NM_006941.4

p.E189D

c.567G>T

1 paper

NM_006941.4

p.E189fs

c.565_566fs

1 paper

NM_006941.4

p.E189D

c.567G>C

1 paper

NM_006941.4

p.E187K

c.559G>A

1 paper

NM_006941.4

p.E189delFs

c.566_567delCT

2 papers

NM_006941.4

p.K182_G186delFs

c.544_557del14

3 papers

NM_006941.4

p.R177_G186delFs

c.529_556del28

1 paper

NM_006941.4

p.G186R

c.556G>C

1 paper

NM_006941.4

p.G186S

c.556G>A

1 paper

NM_006941.4

p.C190W

c.570C>G