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.K165R

c.494A>G

Surrounding Variants

1 paper

NM_006941.4

p.K166E

c.496A>G

1 paper

NM_006941.4

p.H164R

c.491A>G

1 paper

NM_006941.4

p.H164P

c.491A>C

1 paper

NM_006941.4

p.H164N

c.490C>A

2 papers

NM_006941.4

p.K166insFs

c.496_497insA

1 paper

NM_006941.4

p.D167H

c.499G>C

1 paper

NM_006941.4

p.Q163*

c.487C>T

1 paper

NM_006941.4

p.Q163E

c.487C>G

3 papers

NM_006941.4

p.D167fs

c.499_500fs

1 paper

NM_006941.4

p.M162del1

c.484_485delCAT

1 paper

NM_006941.4

p.M162I

c.486G>C

1 paper

NM_006941.4

p.H168Y

c.502C>T