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.L160P

c.479T>C

Surrounding Variants

2 papers

NM_006941.4

p.L160H

c.479T>A

1 paper

NM_006941.4

p.R159R

c.477G>A

7 papers

NM_006941.4

p.R161C

c.481C>T

1 paper

NM_006941.4

p.R159L

c.476G>T

9 papers

NM_006941.4

p.R161H

c.482G>A

1 paper

NM_006941.4

p.R161ins2

c.482_483ins6

2 papers

NM_006941.4

p.R159_R161ins1

c.477_482dup6

6 papers

NM_006941.4

p.R159W

c.475C>T

1 paper

NM_006941.4

p.E158*

c.472G>T

1 paper

NM_006941.4

p.M162I

c.486G>C

1 paper

NM_006941.4

p.Q163*

c.487C>T

1 paper

NM_006941.4

p.Q163E

c.487C>G