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

5 papers

NM_006941.4

p.L42_R43delins

c.126_127delinsTT

Surrounding Variants

22 papers

NM_006941.4

p.R43*

c.127C>T

1 paper

NM_006941.4

p.R43Fs

c.127delinsTTFs

7 papers

NM_006941.4

p.L42_R43delins

c.126_127delinsCT

1 paper

NM_006941.4

p.L42L

c.126G>T

1 paper

NM_006941.4

p.R43Fs

c.127delinsCTFs

2 papers

NM_006941.4

p.L42delFs

c.124delG

1 paper

NM_006941.4

p.R43R

c.129A>G

1 paper

NM_006941.4

p.L42fs

c.124_125fs

2 papers

NM_006941.4

p.L42L

c.124C>T

1 paper

NM_006941.4

p.L42M

c.124C>A

6 papers

NM_006941.4

p.A44G

c.131C>G

1 paper

NM_006941.4

p.A44D

c.131C>A