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.G210S

c.628G>A

Surrounding Variants

1 paper

NM_022454.4

p.G210D

c.629G>A

1 paper

NM_022454.4

p.A211V

c.632C>T

1 paper

NM_022454.4

p.P212S

c.634C>T

1 paper

NM_022454.4

p.P213S

c.637C>T

1 paper

NM_022454.4

p.P213L

c.638C>T

1 paper

NM_022454.4

p.L214R

c.641T>G

1 paper

NM_022454.4

p.R204H

c.611G>A

1 paper

NM_022454.4

p.R204delFs

c.612delC

3 papers

NM_022454.4

p.R204C

c.610C>T

1 paper

NM_022454.4

p.P218P

c.654G>A

1 paper

NM_022454.4

p.G201S

c.601G>A

1 paper

NM_022454.4

p.P220insFs

c.659dupC