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.G365delFs

c.1095delC

Surrounding Variants

1 paper

NM_006941.4

p.P366S

c.1096C>T

1 paper

NM_006941.4

p.P366L

c.1097C>T

1 paper

NM_006941.4

p.G365E

c.1094G>A

2 papers

NM_006941.4

p.G365R

c.1093G>C

2 papers

NM_006941.4

p.G365R

c.1093G>A

2 papers

NM_006941.4

p.Q364delFs

c.1091delT

1 paper

NM_006941.4

p.P367R

c.1100C>G

1 paper

NM_006941.4

p.Q364P

c.1091A>C

1 paper

NM_006941.4

p.P367fs

c.1099_1100fs

1 paper

NM_006941.4

p.P363_Q364Fs

c.1087_1091delinsGCCCCTFs

2 papers

NM_006941.4

p.Q364fs

c.1090_1091fs

3 papers

NM_006941.4

p.Q364*

c.1090C>T