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

2 papers

NM_006941.4

p.S24A

c.70T>G

Surrounding Variants

1 paper

NM_006941.4

p.L23L

c.69G>T

1 paper

NM_006941.4

p.S24Y

c.71C>A

1 paper

NM_006941.4

p.L23fs

c.67_68fs

1 paper

NM_006941.4

p.C22S

c.65G>C

1 paper

NM_006941.4

p.C22S

c.64T>A

1 paper

NM_006941.4

p.G26fs

c.76_77fs

4 papers

NM_006941.4

p.V15_R21delFs

c.44_62del19

1 paper

NM_006941.4

p.R21S

c.61C>A

1 paper

NM_006941.4

p.S27fs

c.79_80fs

1 paper

NM_006941.4

p.G26insFs

c.76dupG

1 paper

NM_006941.4

p.S13_S27delFs

c.38_80del43

1 paper

NM_006941.4

p.A28S

c.82G>T