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.P367R

c.1100C>G

Surrounding Variants

1 paper

NM_006941.4

p.P367fs

c.1099_1100fs

1 paper

NM_006941.4

p.H368D

c.1102C>G

1 paper

NM_006941.4

p.P366L

c.1097C>T

1 paper

NM_006941.4

p.P366S

c.1096C>T

1 paper

NM_006941.4

p.H368Q

c.1104C>G

1 paper

NM_006941.4

p.H368Q

c.1104C>A

2 papers

NM_006941.4

p.G365delFs

c.1095delC

1 paper

NM_006941.4

p.Y369N

c.1105T>A

1 paper

NM_006941.4

p.G365E

c.1094G>A

1 paper

NM_006941.4

p.Y369ins2

c.1106_1107ins6

3 papers

NM_006941.4

p.Y369insFs

c.1106_1107ins17

2 papers

NM_006941.4

p.G365R

c.1093G>C