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

7 papers

NM_022454.4

p.Q316_H317ins2

c.948_949ins6

Surrounding Variants

2 papers

NM_022454.4

p.H317_Q318del0

c.949_954del6

1 paper

NM_022454.4

p.H317_Q318insFs

c.951_954dup4

2 papers

NM_022454.4

p.Q314Q

c.942G>A

1 paper

NM_022454.4

p.Q314_Q316del3

c.940_947del9

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.H321Y

c.961C>T

1 paper

NM_022454.4

p.F311S

c.932T>C

1 paper

NM_022454.4

p.R309R

c.927C>A

1 paper

NM_022454.4

p.H326ins2

c.976_977ins6

1 paper

NM_022454.4

p.H326fs

c.976_977fs

3 papers

NM_022454.4

p.P328delFs

c.983delC