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.A75delFs

c.223delC

Surrounding Variants

1 paper

NM_006941.4

p.A75V

c.224C>T

1 paper

NM_006941.4

p.V76D

c.227T>A

1 paper

NM_006941.4

p.E74K

c.220G>A

1 paper

NM_006941.4

p.S77C

c.229A>T

1 paper

NM_006941.4

p.R73H

c.218G>A

4 papers

NM_006941.4

p.Q78*

c.232C>T

1 paper

NM_006941.4

p.C71G

c.211T>G

1 paper

NM_006941.4

p.C71fs

c.211_212fs

6 papers

NM_006941.4

p.L80V

c.238C>G

1 paper

NM_006941.4

p.L80P

c.239T>C

1 paper

NM_006941.4

p.V70A

c.209T>C

1 paper

NM_006941.4

p.V70L

c.208G>T