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

1–12 of 333 variants

14 papers

NM_022454.4

p.S403I

c.1208G>T

11 papers

NM_022454.4

p.Y259N

c.775T>A

7 papers

NM_022454.4

p.N95S

c.284A>G

7 papers

NM_022454.4

p.D131G

c.392A>G

7 papers

NM_022454.4

p.R140P

c.419G>C

7 papers

NM_022454.4

p.Q316_H317ins2

c.948_949ins6

6 papers

NM_022454.4

p.H132D

c.394C>G

6 papers

NM_022454.4

p.L167_V174delFs

c.499_520del22

6 papers

NM_022454.4

p.T361K

c.1082C>A

6 papers

NM_022454.4

p.Y379F

c.1136A>T

5 papers

NM_022454.4

p.A96G

c.287C>G

5 papers

NM_022454.4

p.G103Splc

c.307+5G>C