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.R43R

c.129A>G

Surrounding Variants

1 paper

NM_006941.4

p.R43Fs

c.127delinsCTFs

22 papers

NM_006941.4

p.R43*

c.127C>T

1 paper

NM_006941.4

p.R43Fs

c.127delinsTTFs

6 papers

NM_006941.4

p.A44G

c.131C>G

1 paper

NM_006941.4

p.A44D

c.131C>A

5 papers

NM_006941.4

p.L42_R43delins

c.126_127delinsTT

7 papers

NM_006941.4

p.L42_R43delins

c.126_127delinsCT

1 paper

NM_006941.4

p.L42L

c.126G>T

2 papers

NM_006941.4

p.G38_A44delFs

c.112_131del20

2 papers

NM_006941.4

p.L42delFs

c.124delG

1 paper

NM_006941.4

p.S45fs

c.133_134fs

1 paper

NM_006941.4

p.L42_A44delFs

c.125_132del8