Varaico: Literature-Extracted Genetic Variants

SOX17

257 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

HMG_boxaa 68–136UCSCHMG (high mobility group) box

Sox17_18_midaa 203–253UCSCSox 17/18 central domain

Gene Aliases

HGNC Name

SRY-box transcription factor 17

HGNC Previous Names

SRY (sex determining region Y)-box 17; SRY-box 17

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022454.4

p.R61delFs

c.183delA

Surrounding Variants

1 paper

NM_022454.4

p.R61*

c.181C>T

2 papers

NM_022454.4

p.G60R

c.178G>C

1 paper

NM_022454.4

p.G64S

c.190G>A

1 paper

NM_022454.4

p.G64C

c.190G>T

2 papers

NM_022454.4

p.R67G

c.199C>G

4 papers

NM_022454.4

p.P55L

c.164C>T

1 paper

NM_022454.4

p.R67H

c.200G>A

3 papers

NM_022454.4

p.R70G

c.208C>G

2 papers

NM_022454.4

p.R70W

c.208C>T

4 papers

NM_022454.4

p.R70Q

c.209G>A

1 paper

NM_022454.4

p.S52N

c.155G>A

1 paper

NM_022454.4

p.R70L

c.209G>T