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.V345I

c.1033G>A

Surrounding Variants

1 paper

NM_006941.4

p.T344M

c.1031C>T

1 paper

NM_006941.4

p.T344P

c.1030A>C

1 paper

NM_006941.4

p.S346fs

c.1036_1037fs

1 paper

NM_006941.4

p.P343L

c.1028C>T

1 paper

NM_006941.4

p.P347S

c.1039C>T

1 paper

NM_006941.4

p.P343T

c.1027C>A

2 papers

NM_006941.4

p.V340_L342del3

c.1018_1025del9

4 papers

NM_006941.4

p.P347fs

c.1039_1040fs

1 paper

NM_006941.4

p.P347L

c.1040C>T

2 papers

NM_006941.4

p.S346_P347delFs

c.1038_1039delGT

2 papers

NM_006941.4

p.P347delFs

c.1040delG

1 paper

NM_006941.4

p.L342V

c.1024C>G