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.R258Q

c.773G>A

Surrounding Variants

1 paper

NM_006941.4

p.R258L

c.773G>T

1 paper

NM_006941.4

p.R258W

c.772C>T

1 paper

NM_006941.4

p.K257*

c.769A>T

1 paper

NM_006941.4

p.G260R

c.778G>C

1 paper

NM_006941.4

p.G260R

c.778G>A

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.R261S

c.781C>A

12 papers

NM_006941.4

p.G260delFs

c.778delC

3 papers

NM_006941.4

p.D259_G260delFs

c.776_780del5

3 papers

NM_006941.4

p.R261fs

c.781_782fs

3 papers

NM_006941.4

p.R261H

c.782G>A