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.Q125_Y126insFs

c.373_376dup4

Surrounding Variants

2 papers

NM_006941.4

p.L122_Y126delFs

c.366_376del11

1 paper

NM_006941.4

p.Y126H

c.376T>C

1 paper

NM_006941.4

p.Y126*

c.378C>G

3 papers

NM_006941.4

p.Y126*

c.378C>A

1 paper

NM_006941.4

p.Y126fs

c.376_377fs

1 paper

NM_006941.4

p.Q125P

c.374A>C

2 papers

NM_006941.4

p.Q125*

c.373C>T

1 paper

NM_006941.4

p.D124G

c.371A>G

1 paper

NM_006941.4

p.D124Y

c.370G>T

1 paper

NM_006941.4

p.D124H

c.370G>C

1 paper

NM_006941.4

p.H128Q

c.384C>G

1 paper

NM_006941.4

p.H128Q

c.384C>A