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.G26insFs

c.76dupG

Surrounding Variants

1 paper

NM_006941.4

p.S27fs

c.79_80fs

1 paper

NM_006941.4

p.S13_S27delFs

c.38_80del43

1 paper

NM_006941.4

p.A28S

c.82G>T

1 paper

NM_006941.4

p.G26fs

c.76_77fs

1 paper

NM_006941.4

p.A28V

c.83C>T

1 paper

NM_006941.4

p.S24_A28ins1

c.70_84dup15

1 paper

NM_006941.4

p.P29T

c.85C>A

1 paper

NM_006941.4

p.P29L

c.86C>T

1 paper

NM_006941.4

p.S24Y

c.71C>A

2 papers

NM_006941.4

p.S24A

c.70T>G

1 paper

NM_006941.4

p.L23L

c.69G>T

5 papers

NM_006941.4

p.S30*

c.89C>A