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.A2V

c.5C>T

Surrounding Variants

1 paper

NM_006941.4

p.A2_E3insFs

c.6_7ins10

5 papers

NM_006941.4

p.E3*

c.7G>T

1 paper

NM_006941.4

p.M1insFs

c.2_3insT

1 paper

NM_006941.4

p.E3fs

c.7_8fs

5 papers

NM_006941.4

p.M1R

c.2T>G

1 paper

NM_006941.4

p.M1T

c.2T>C

2 papers

NM_006941.4

p.M1V

c.1A>G

1 paper

NM_006941.4

p.E4D

c.12G>C

1 paper

NM_006941.4

p.E4E

c.12G>A

1 paper

NM_006941.4

p.E4_Q5delins

c.12_13delinsAT

1 paper

NM_006941.4

p.Q5L

c.14A>T

1 paper

NM_006941.4

p.Q5H

c.15G>T