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.G96delFs

c.287delC

Surrounding Variants

1 paper

NM_006941.4

p.N95S

c.284A>G

1 paper

NM_006941.4

p.S98delins

c.292delinsCGAC

1 paper

NM_006941.4

p.A97delFs

c.291delG

1 paper

NM_006941.4

p.N95fs

c.283_284fs

1 paper

NM_006941.4

p.V94delFs

c.282delG

1 paper

NM_006941.4

p.R93_V94delFs

c.278_281del4

1 paper

NM_006941.4

p.V94A

c.281T>C

1 paper

NM_006941.4

p.K99*

c.295A>T

1 paper

NM_006941.4

p.K99R

c.296A>G

1 paper

NM_006941.4

p.R93H

c.278G>A

2 papers

NM_006941.4

p.S100fs

c.298_299fs

2 papers

NM_006941.4

p.S100insFs

c.299_300insA