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

3 papers

NM_022454.4

p.Q163fs

c.487_488fs

Surrounding Variants

6 papers

NM_022454.4

p.L167_V174delFs

c.499_520del22

2 papers

NM_022454.4

p.Q163H

c.489G>C

2 papers

NM_022454.4

p.Q163H

c.489G>T

2 papers

NM_022454.4

p.A160V

c.479C>T

1 paper

NM_022454.4

p.L167fs

c.499_500fs

5 papers

NM_022454.4

p.L167fs

c.499_500fs

1 paper

NM_022454.4

p.G158D

c.473G>A

3 papers

NM_022454.4

p.H157Q

c.471C>A

3 papers

NM_022454.4

p.H157Q

c.471C>G

1 paper

NM_022454.4

p.L156M

c.466C>A

1 paper

NM_022454.4

p.G172del1

c.514_515delGGC

1 paper

NM_022454.4

p.G172S

c.514G>A