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.M263I

c.789G>T

Surrounding Variants

1 paper

NM_006941.4

p.M263I

c.789G>C

1 paper

NM_006941.4

p.M263I

c.789G>A

1 paper

NM_006941.4

p.M263L

c.787A>T

1 paper

NM_006941.4

p.M263V

c.787A>G

1 paper

NM_006941.4

p.S262delFs

c.785delG

1 paper

NM_006941.4

p.E265G

c.794A>G

1 paper

NM_006941.4

p.R261_E265delFs

c.781_793del13

1 paper

NM_006941.4

p.R261fs

c.781_782fs

3 papers

NM_006941.4

p.R261H

c.782G>A

1 paper

NM_006941.4

p.G266fs

c.796_797fs

1 paper

NM_006941.4

p.G266D

c.797G>A

1 paper

NM_006941.4

p.R261S

c.781C>A