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.I271fs

c.811_812fs

Surrounding Variants

1 paper

NM_006941.4

p.I271V

c.811A>G

3 papers

NM_006941.4

p.I271delFs

c.811delT

1 paper

NM_006941.4

p.K268delFs

c.803delT

1 paper

NM_006941.4

p.F273insFs

c.818dupT

1 paper

NM_006941.4

p.G274C

c.820G>T

2 papers

NM_006941.4

p.G274S

c.820G>A

1 paper

NM_006941.4

p.K268fs

c.802_803fs

1 paper

NM_006941.4

p.G267E

c.800G>A

3 papers

NM_006941.4

p.G274G

c.822C>T

2 papers

NM_006941.4

p.G267R

c.799G>C

2 papers

NM_006941.4

p.G267R

c.799G>A

9 papers

NM_006941.4

p.E265delFs

c.795delC