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

4 papers

NM_006941.4

p.G38fs

c.112_113fs

Surrounding Variants

7 papers

NM_006941.4

p.G38delFs

c.113delC

2 papers

NM_006941.4

p.G39*

c.115G>T

2 papers

NM_006941.4

p.G38D

c.113G>A

1 paper

NM_006941.4

p.G39R

c.115G>A

1 paper

NM_006941.4

p.G39fs

c.115_116fs

1 paper

NM_006941.4

p.G39E

c.116G>A

1 paper

NM_006941.4

p.G38fs

c.112_113fs

1 paper

NM_006941.4

p.G37fs

c.109_110fs

2 papers

NM_006941.4

p.G38_G39ins0

c.114_116dupCGG

1 paper

NM_006941.4

p.G37_G39ins1

c.111_116dup6

2 papers

NM_006941.4

p.G38_G39del1

c.114_116delCCG

2 papers

NM_006941.4

p.G39del1

c.115_116delTCC