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.V340L

c.1018G>C

Surrounding Variants

1 paper

NM_006941.4

p.V340L

c.1018G>T

4 papers

NM_006941.4

p.V340M

c.1018G>A

1 paper

NM_006941.4

p.V340A

c.1019T>C

1 paper

NM_006941.4

p.G339S

c.1015G>A

1 paper

NM_006941.4

p.V340_A341delFs

c.1018_1022del5

1 paper

NM_006941.4

p.P338L

c.1013C>T

1 paper

NM_006941.4

p.P338R

c.1013C>G

1 paper

NM_006941.4

p.L342V

c.1024C>G

1 paper

NM_006941.4

p.P337L

c.1010C>T

1 paper

NM_006941.4

p.P343T

c.1027C>A

2 papers

NM_006941.4

p.V340_L342del3

c.1018_1025del9

1 paper

NM_006941.4

p.K336N

c.1008G>T