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.E280D

c.840G>C

Surrounding Variants

1 paper

NM_006941.4

p.E280D

c.840G>T

3 papers

NM_006941.4

p.I281insFs

c.842dupT

1 paper

NM_006941.4

p.G279D

c.836G>A

1 paper

NM_006941.4

p.S282fs

c.844_845fs

1 paper

NM_006941.4

p.I278_I281del4

c.832_842del12

1 paper

NM_006941.4

p.D277_I278delFs

c.831_832delTG

5 papers

NM_006941.4

p.H283insFs

c.847_848insT

1 paper

NM_006941.4

p.H283fs

c.847_848fs

2 papers

NM_006941.4

p.I278V

c.832A>G

2 papers

NM_006941.4

p.E284*

c.850G>T

1 paper

NM_006941.4

p.D277N

c.829G>A

1 paper

NM_006941.4

p.V276V

c.828G>T