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

3 papers

NM_022454.4

p.P328delFs

c.983delC

Surrounding Variants

1 paper

NM_022454.4

p.H326ins2

c.976_977ins6

1 paper

NM_022454.4

p.H326fs

c.976_977fs

2 papers

NM_022454.4

p.P328fs

c.982_983fs

2 papers

NM_022454.4

p.P328A

c.982C>G

1 paper

NM_022454.4

p.G329S

c.985G>A

1 paper

NM_022454.4

p.G331E

c.992G>A

1 paper

NM_022454.4

p.H321Y

c.961C>T

1 paper

NM_022454.4

p.Q332*

c.994C>T

1 paper

NM_022454.4

p.Q320H

c.960G>C

1 paper

NM_022454.4

p.Q320H

c.960G>T

1 paper

NM_022454.4

p.Q332R

c.995A>G

1 paper

NM_022454.4

p.P333S

c.997C>T