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.A323T

c.967G>A

Surrounding Variants

1 paper

NM_006941.4

p.A323V

c.968C>T

1 paper

NM_006941.4

p.G321delFs

c.962_963delGC

2 papers

NM_006941.4

p.G321R

c.961G>C

1 paper

NM_006941.4

p.A325T

c.973G>A

3 papers

NM_006941.4

p.V326M

c.976G>A

2 papers

NM_006941.4

p.V326A

c.977T>C

1 paper

NM_006941.4

p.G319E

c.956G>A

1 paper

NM_006941.4

p.Y313_V326del14

c.937_977del42

1 paper

NM_006941.4

p.A327fs

c.979_980fs

1 paper

NM_006941.4

p.A327delFs

c.979delC

1 paper

NM_006941.4

p.A323_A327delFs

c.967_979del13

1 paper

NM_006941.4

p.Y318C

c.953A>G