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.L51delFs

c.151delG

Surrounding Variants

1 paper

NM_006941.4

p.L51fs

c.151_152fs

1 paper

NM_006941.4

p.S45_G52delFs

c.135_154del20

1 paper

NM_006941.4

p.L51delFs

c.153delC

1 paper

NM_006941.4

p.K53M

c.158A>T

1 paper

NM_006941.4

p.K53N

c.159G>T

1 paper

NM_006941.4

p.K53N

c.159G>C

1 paper

NM_006941.4

p.V54L

c.160G>C

1 paper

NM_006941.4

p.P48S

c.142C>T

1 paper

NM_006941.4

p.P48T

c.142C>A

2 papers

NM_006941.4

p.K55*

c.163A>T

2 papers

NM_006941.4

p.K55E

c.163A>G

1 paper

NM_006941.4

p.G47V

c.140G>T