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

23 papers

NM_006941.4

p.S135T

c.404G>C

Surrounding Variants

2 papers

NM_006941.4

p.S135N

c.404G>A

4 papers

NM_006941.4

p.S135R

c.405C>G

1 paper

NM_006941.4

p.S135insFs

c.404dupG

1 paper

NM_006941.4

p.S135fs

c.403_404fs

4 papers

NM_006941.4

p.S135R

c.405C>A

1 paper

NM_006941.4

p.S135delFs

c.404delC

1 paper

NM_006941.4

p.S135C

c.403A>T

4 papers

NM_006941.4

p.S135R

c.403A>C

2 papers

NM_006941.4

p.L134fs

c.400_401fs

1 paper

NM_006941.4

p.K136E

c.406A>G

1 paper

NM_006941.4

p.L134R

c.401T>G

1 paper

NM_006941.4

p.L134P

c.401T>C