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

5 papers

NM_006941.4

p.N131H

c.391A>C

Surrounding Variants

4 papers

NM_006941.4

p.N131D

c.391A>G

1 paper

NM_006941.4

p.N131K

c.393C>G

1 paper

NM_006941.4

p.N131_A132insFs

c.393_394insG

1 paper

NM_006941.4

p.N131K

c.393C>A

1 paper

NM_006941.4

p.A132V

c.395C>T

1 paper

NM_006941.4

p.A132G

c.395C>G

7 papers

NM_006941.4

p.L129P

c.386T>C

1 paper

NM_006941.4

p.E133Q

c.397G>C

1 paper

NM_006941.4

p.L129fs

c.385_386fs

1 paper

NM_006941.4

p.H128Q

c.384C>G

1 paper

NM_006941.4

p.H128Q

c.384C>A

3 papers

NM_006941.4

p.E133G

c.398A>G