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

2 papers

NM_022454.4

p.P263insFs

c.788dupC

Surrounding Variants

1 paper

NM_022454.4

p.G261_P262Fs

c.783_784delinsAFs

3 papers

NM_022454.4

p.P263fs

c.787_788fs

2 papers

NM_022454.4

p.P263fs

c.787_788fs

1 paper

NM_022454.4

p.P263L

c.788C>T

11 papers

NM_022454.4

p.Y259N

c.775T>A

1 paper

NM_022454.4

p.E264fs

c.790_791fs

2 papers

NM_022454.4

p.E264fs

c.790_791fs

1 paper

NM_022454.4

p.S257L

c.770C>T

1 paper

NM_022454.4

p.V256delFs

c.767delT

1 paper

NM_022454.4

p.P269_M270delins

c.807_808delinsAT

1 paper

NM_022454.4

p.Y253N

c.757T>A

1 paper

NM_022454.4

p.M270L

c.808A>C