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

3 papers

NM_006941.4

p.Q299fs

c.895_896fs

Surrounding Variants

1 paper

NM_006941.4

p.Q299E

c.895C>G

2 papers

NM_006941.4

p.Q299_Y300insA

c.895_899ins3

1 paper

NM_006941.4

p.D298E

c.894C>G

4 papers

NM_006941.4

p.Q299delFs

c.895delG

1 paper

NM_006941.4

p.Y300H

c.898T>C

1 paper

NM_006941.4

p.L297S

c.890T>C

1 paper

NM_006941.4

p.Y300*

c.900C>A

2 papers

NM_006941.4

p.P302L

c.905C>T

1 paper

NM_006941.4

p.P302insFs

c.905dupC

1 paper

NM_006941.4

p.P302fs

c.904_905fs

1 paper

NM_006941.4

p.P303S

c.907C>T

1 paper

NM_006941.4

p.V294L

c.880G>C