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

2 papers

NM_006941.4

p.L122V

c.364C>G

Surrounding Variants

1 paper

NM_006941.4

p.L122R

c.365T>G

1 paper

NM_006941.4

p.A123P

c.367G>C

1 paper

NM_006941.4

p.A123V

c.368C>T

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.D124G

c.371A>G

4 papers

NM_006941.4

p.R119L

c.356G>T

4 papers

NM_006941.4

p.R119C

c.355C>T

2 papers

NM_006941.4

p.Q125*

c.373C>T

1 paper

NM_006941.4

p.R119insFs

c.355_356insT

3 papers

NM_006941.4

p.R119insFs

c.355_356ins11

1 paper

NM_006941.4

p.R119fs

c.355_356fs