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.G172D

c.515G>A

Surrounding Variants

1 paper

NM_022454.4

p.G172S

c.514G>A

1 paper

NM_022454.4

p.G172del1

c.514_515delGGC

1 paper

NM_022454.4

p.L167fs

c.499_500fs

5 papers

NM_022454.4

p.L167fs

c.499_500fs

2 papers

NM_022454.4

p.G178C

c.532G>T

1 paper

NM_022454.4

p.L179_Q182delFs

c.537_546del10

1 paper

NM_022454.4

p.G180G

c.540C>T

1 paper

NM_022454.4

p.L181fs

c.541_542fs

2 papers

NM_022454.4

p.Q163H

c.489G>C

2 papers

NM_022454.4

p.Q163H

c.489G>T

6 papers

NM_022454.4

p.L167_V174delFs

c.499_520del22

3 papers

NM_022454.4

p.Q163fs

c.487_488fs