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

2 papers

NM_006941.4

p.A254delFs

c.762delT

Surrounding Variants

1 paper

NM_006941.4

p.K253delFs

c.759delC

2 papers

NM_006941.4

p.P256L

c.767C>T

1 paper

NM_006941.4

p.P256R

c.767C>G

1 paper

NM_006941.4

p.K257*

c.769A>T

1 paper

NM_006941.4

p.G252S

c.754G>A

1 paper

NM_006941.4

p.T244_S251del0

c.730_753del24

1 paper

NM_006941.4

p.R258W

c.772C>T

2 papers

NM_006941.4

p.G252fs

c.754_755fs

1 paper

NM_006941.4

p.R258L

c.773G>T

1 paper

NM_006941.4

p.L249_S251insFs

c.746_752dup7

3 papers

NM_006941.4

p.R258Q

c.773G>A

1 paper

NM_006941.4

p.S251L

c.752C>T