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

4 papers

NM_006941.4

p.R119C

c.355C>T

Surrounding Variants

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

4 papers

NM_006941.4

p.R119L

c.356G>T

1 paper

NM_006941.4

p.A118E

c.353C>A

1 paper

NM_006941.4

p.A118P

c.352G>C

1 paper

NM_006941.4

p.W114_Q116del3

c.340_347del9

1 paper

NM_006941.4

p.Q116P

c.347A>C

2 papers

NM_006941.4

p.Q116*

c.346C>T

4 papers

NM_006941.4

p.Q116E

c.346C>G

2 papers

NM_006941.4

p.L122V

c.364C>G

1 paper

NM_006941.4

p.L122R

c.365T>G