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.V113L

c.337G>T

Surrounding Variants

1 paper

NM_006941.4

p.V113L

c.337G>C

1 paper

NM_006941.4

p.V113A

c.338T>C

12 papers

NM_006941.4

p.M112I

c.336G>T

12 papers

NM_006941.4

p.M112I

c.336G>C

13 papers

NM_006941.4

p.M112I

c.336G>A

4 papers

NM_006941.4

p.M112R

c.335T>G

4 papers

NM_006941.4

p.M112T

c.335T>C

4 papers

NM_006941.4

p.W114R

c.340T>C

4 papers

NM_006941.4

p.W114R

c.340T>A

1 paper

NM_006941.4

p.M112V

c.334A>G

1 paper

NM_006941.4

p.W114S

c.341G>C

8 papers

NM_006941.4

p.W114*

c.341G>A