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

7 papers

NM_022454.4

p.R140P

c.419G>C

Surrounding Variants

1 paper

NM_022454.4

p.R140L

c.419G>T

2 papers

NM_022454.4

p.R140W

c.418C>T

1 paper

NM_022454.4

p.R141R

c.421C>A

1 paper

NM_022454.4

p.P139Q

c.416C>A

3 papers

NM_022454.4

p.P139L

c.416C>T

2 papers

NM_022454.4

p.R141Q

c.422G>A

2 papers

NM_022454.4

p.R141L

c.422G>T

1 paper

NM_022454.4

p.P139S

c.415C>T

1 paper

NM_022454.4

p.R142del1

c.424_425delCGC

3 papers

NM_022454.4

p.R138P

c.413G>C

1 paper

NM_022454.4

p.R138G

c.412C>G

1 paper

NM_022454.4

p.R138W

c.412C>T