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.V118L

c.352G>C

Surrounding Variants

1 paper

NM_022454.4

p.V118M

c.352G>A

1 paper

NM_022454.4

p.V118L

c.352G>T

1 paper

NM_022454.4

p.V118A

c.353T>C

1 paper

NM_022454.4

p.F117I

c.349T>A

1 paper

NM_022454.4

p.F117V

c.349T>G

1 paper

NM_022454.4

p.F117fs

c.349_350fs

1 paper

NM_022454.4

p.P116S

c.346C>T

1 paper

NM_022454.4

p.E120E

c.360G>A

3 papers

NM_022454.4

p.R115fs

c.343_344fs

1 paper

NM_022454.4

p.R115W

c.343C>T

2 papers

NM_022454.4

p.R115delFs

c.344delG

2 papers

NM_022454.4

p.A121T

c.361G>A