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.G103C

c.307G>T

Surrounding Variants

2 papers

NM_022454.4

p.G103R

c.307G>C

5 papers

NM_022454.4

p.G103Splc

c.307+5G>C

1 paper

NM_022454.4

p.M101V

c.301A>G

1 paper

NM_022454.4

p.K100M

c.299A>T

1 paper

NM_022454.4

p.E97K

c.289G>A

2 papers

NM_022454.4

p.A96D

c.287C>A

5 papers

NM_022454.4

p.A96G

c.287C>G

7 papers

NM_022454.4

p.N95S

c.284A>G

1 paper

NM_022454.4

p.N95fs

c.283_284fs

1 paper

NM_022454.4

p.N95_A96delFs

c.283_287del5

3 papers

NM_022454.4

p.L93M

c.277C>A

1 paper

NM_022454.4

p.L93_H94insT

c.277_281ins3