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.T243T

c.729C>A

Surrounding Variants

1 paper

NM_006941.4

p.T243N

c.728C>A

2 papers

NM_006941.4

p.T244A

c.730A>G

1 paper

NM_006941.4

p.T244P

c.730A>C

1 paper

NM_006941.4

p.T243fs

c.727_728fs

1 paper

NM_006941.4

p.P242insFs

c.725dupC

3 papers

NM_006941.4

p.P245R

c.734C>G

1 paper

NM_006941.4

p.P245delFs

c.734_735delCG

1 paper

NM_006941.4

p.P241T

c.721C>A

1 paper

NM_006941.4

p.K246R

c.737A>G

1 paper

NM_006941.4

p.K246T

c.737A>C

1 paper

NM_006941.4

p.T247fs

c.739_740fs

2 papers

NM_006941.4

p.T240A

c.718A>G