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.S376fs

c.1126_1127fs

Surrounding Variants

1 paper

NM_006941.4

p.T375insFs

c.1125dupC

1 paper

NM_006941.4

p.T375T

c.1125C>T

6 papers

NM_006941.4

p.S376*

c.1127C>G

6 papers

NM_006941.4

p.S376*

c.1127C>A

1 paper

NM_006941.4

p.T375I

c.1124C>T

19 papers

NM_006941.4

p.Q377*

c.1129C>T

2 papers

NM_006941.4

p.T375fs

c.1123_1124fs

1 paper

NM_006941.4

p.T375A

c.1123A>G

2 papers

NM_006941.4

p.S374delFs

c.1122delG

2 papers

NM_006941.4

p.P366_S376del11

c.1096_1127del33

1 paper

NM_006941.4

p.I378V

c.1132A>G

1 paper

NM_006941.4

p.A379T

c.1135G>A