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.M199L

c.595A>C

Surrounding Variants

2 papers

NM_022454.4

p.M199L

c.595A>T

1 paper

NM_022454.4

p.H198insFs

c.592dupC

1 paper

NM_022454.4

p.P197_G201delFs

c.590_602del13

1 paper

NM_022454.4

p.G201S

c.601G>A

1 paper

NM_022454.4

p.P197_R204delFs

c.590_612del23

2 papers

NM_022454.4

p.L194P

c.581T>C

3 papers

NM_022454.4

p.R204C

c.610C>T

1 paper

NM_022454.4

p.R204H

c.611G>A

1 paper

NM_022454.4

p.R204delFs

c.612delC

1 paper

NM_022454.4

p.G191V

c.572G>T

1 paper

NM_022454.4

p.G210S

c.628G>A

1 paper

NM_022454.4

p.G210D

c.629G>A