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.A87S

c.259G>T

Surrounding Variants

2 papers

NM_022454.4

p.R85W

c.253C>T

1 paper

NM_022454.4

p.R83H

c.248G>A

1 paper

NM_022454.4

p.P91_L93delFs

c.273_277del5

2 papers

NM_022454.4

p.R83C

c.247C>T

1 paper

NM_022454.4

p.P91Q

c.272C>A

2 papers

NM_022454.4

p.E82*

c.244G>T

1 paper

NM_022454.4

p.D92Y

c.274G>T

2 papers

NM_022454.4

p.D92fs

c.274_275fs

1 paper

NM_022454.4

p.D81E

c.243C>A

1 paper

NM_022454.4

p.D81E

c.243C>G

3 papers

NM_022454.4

p.L93M

c.277C>A

1 paper

NM_022454.4

p.L93_H94insT

c.277_281ins3