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

3 papers

NM_006941.4

p.P169fs

c.505_506fs

Surrounding Variants

7 papers

NM_006941.4

p.P169L

c.506C>T

2 papers

NM_006941.4

p.P169fs

c.505_506fs

7 papers

NM_006941.4

p.P169delFs

c.506delG

1 paper

NM_006941.4

p.H168delFs

c.502delG

1 paper

NM_006941.4

p.D170ins7

c.508_509ins21

1 paper

NM_006941.4

p.D170N

c.508G>A

1 paper

NM_006941.4

p.H168Y

c.502C>T

1 paper

NM_006941.4

p.H168N

c.502C>A

3 papers

NM_006941.4

p.D167fs

c.499_500fs

1 paper

NM_006941.4

p.D170_Y171ins2

c.510_511ins6

4 papers

NM_006941.4

p.Y171H

c.511T>C

2 papers

NM_006941.4

p.K166insFs

c.496_497insA