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.T86R

c.257C>G

Surrounding Variants

2 papers

NM_006941.4

p.T86A

c.256A>G

10 papers

NM_006941.4

p.W85*

c.255G>A

10 papers

NM_006941.4

p.W85*

c.254G>A

1 paper

NM_006941.4

p.L87delFs

c.259_260delAG

1 paper

NM_006941.4

p.V88M

c.262G>A

4 papers

NM_006941.4

p.L87del1

c.259_260delCAG

1 paper

NM_006941.4

p.D84E

c.252C>G

1 paper

NM_006941.4

p.D84E

c.252C>A

1 paper

NM_006941.4

p.P89S

c.265C>T

1 paper

NM_006941.4

p.Y83Y

c.249C>T

17 papers

NM_006941.4

p.Y83*

c.249C>G

17 papers

NM_006941.4

p.Y83*

c.249C>A