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

9 papers

NM_006941.4

p.R106W

c.316C>T

Surrounding Variants

1 paper

NM_006941.4

p.R106G

c.316C>G

1 paper

NM_006941.4

p.K105delFs

c.314_315delCT

2 papers

NM_006941.4

p.P107S

c.319C>T

1 paper

NM_006941.4

p.K105Q

c.313A>C

1 paper

NM_006941.4

p.V104I

c.310G>A

2 papers

NM_006941.4

p.P107insFs

c.321dupC

11 papers

NM_006941.4

p.M108T

c.323T>C

1 paper

NM_006941.4

p.K101_P107del7

c.301_320del21

1 paper

NM_006941.4

p.H103Y

c.307C>T

7 papers

NM_006941.4

p.N109Y

c.325A>T

8 papers

NM_006941.4

p.N109S

c.326A>G

2 papers

NM_006941.4

p.P102L

c.305C>T