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.G61G

c.183C>T

Surrounding Variants

5 papers

NM_006941.4

p.E62*

c.184G>T

1 paper

NM_006941.4

p.G61D

c.182G>A

2 papers

NM_006941.4

p.G61S

c.181G>A

2 papers

NM_006941.4

p.D60fs

c.178_179fs

1 paper

NM_006941.4

p.D60V

c.179A>T

2 papers

NM_006941.4

p.D60delFs

c.178delC

1 paper

NM_006941.4

p.D60N

c.178G>A

1 paper

NM_006941.4

p.D60fs

c.178_179fs

1 paper

NM_006941.4

p.D64N

c.190G>A

1 paper

NM_006941.4

p.Q59L

c.176A>T

1 paper

NM_006941.4

p.Q59*

c.175C>T

1 paper

NM_006941.4

p.Q59E

c.175C>G