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.Y135C

c.404A>G

Surrounding Variants

1 paper

NM_022454.4

p.K136E

c.406A>G

2 papers

NM_022454.4

p.K136N

c.408G>C

2 papers

NM_022454.4

p.K136N

c.408G>T

1 paper

NM_022454.4

p.R138delFs

c.412delC

5 papers

NM_022454.4

p.P133L

c.398C>T

4 papers

NM_022454.4

p.Y137*

c.411C>A

4 papers

NM_022454.4

p.Y137*

c.411C>G

3 papers

NM_022454.4

p.P133A

c.397C>G

4 papers

NM_022454.4

p.P133S

c.397C>T

1 paper

NM_022454.4

p.R138G

c.412C>G

1 paper

NM_022454.4

p.R138W

c.412C>T

1 paper

NM_022454.4

p.R138fs

c.412_413fs