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.A354fs

c.1060_1061fs

Surrounding Variants

2 papers

NM_006941.4

p.K353delFs

c.1059delT

1 paper

NM_006941.4

p.D351_A354del0

c.1052_1060del9

6 papers

NM_006941.4

p.Q355*

c.1063C>T

1 paper

NM_006941.4

p.Q355_V356insT

c.1063_1067ins3

3 papers

NM_006941.4

p.Q355_V356ins11

c.1063_1067ins33

1 paper

NM_006941.4

p.A352G

c.1055C>G

1 paper

NM_006941.4

p.V356M

c.1066G>A

1 paper

NM_006941.4

p.V356A

c.1067T>C

1 paper

NM_006941.4

p.K357R

c.1070A>G

1 paper

NM_006941.4

p.G349insFs

c.1047dupT

3 papers

NM_006941.4

p.V350fs

c.1048_1049fs

1 paper

NM_006941.4

p.T358A

c.1072A>G