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

1 paper

NM_006941.4

p.M90T

c.269T>C

Surrounding Variants

2 papers

NM_006941.4

p.M90fs

c.268_269fs

2 papers

NM_006941.4

p.M90fs

c.268_269fs

5 papers

NM_006941.4

p.P89delFs

c.267delG

1 paper

NM_006941.4

p.P91fs

c.271_272fs

1 paper

NM_006941.4

p.P89S

c.265C>T

7 papers

NM_006941.4

p.V92L

c.274G>T

8 papers

NM_006941.4

p.V92L

c.274G>C

4 papers

NM_006941.4

p.V92M

c.274G>A

1 paper

NM_006941.4

p.V88M

c.262G>A

1 paper

NM_006941.4

p.P91_V92delFs

c.271_275del5

4 papers

NM_006941.4

p.L87del1

c.259_260delCAG

1 paper

NM_006941.4

p.L87delFs

c.259_260delAG