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

7 papers

NM_006941.4

p.K56delFs

c.168delC

Surrounding Variants

1 paper

NM_006941.4

p.E57fs

c.169_170fs

1 paper

NM_006941.4

p.E57K

c.169G>A

3 papers

NM_006941.4

p.E57fs

c.169_170fs

2 papers

NM_006941.4

p.K56R

c.167A>G

2 papers

NM_006941.4

p.K55delFs

c.165delC

1 paper

NM_006941.4

p.K55delFs

c.163delT

1 paper

NM_006941.4

p.Q59*

c.175C>T

1 paper

NM_006941.4

p.Q59E

c.175C>G

1 paper

NM_006941.4

p.Q59K

c.175C>A

1 paper

NM_006941.4

p.Q59L

c.176A>T

1 paper

NM_006941.4

p.K55R

c.164A>G

2 papers

NM_006941.4

p.K55*

c.163A>T