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.P48S

c.142C>T

Surrounding Variants

1 paper

NM_006941.4

p.P48T

c.142C>A

1 paper

NM_006941.4

p.G47V

c.140G>T

1 paper

NM_006941.4

p.G47R

c.139G>C

1 paper

NM_006941.4

p.P46S

c.136C>T

1 paper

NM_006941.4

p.S45delFs

c.133delT

1 paper

NM_006941.4

p.L51fs

c.151_152fs

1 paper

NM_006941.4

p.S45fs

c.133_134fs

1 paper

NM_006941.4

p.L42_A44delFs

c.125_132del8

1 paper

NM_006941.4

p.G38_A44del0

c.112_132del21

1 paper

NM_006941.4

p.L51delFs

c.151delG

2 papers

NM_006941.4

p.G38_A44delFs

c.112_131del20

6 papers

NM_006941.4

p.A44G

c.131C>G