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.L274H

c.821T>A

Surrounding Variants

1 paper

NM_022454.4

p.L274fs

c.820_821fs

1 paper

NM_022454.4

p.R273insFs

c.818dupG

1 paper

NM_022454.4

p.R273fs

c.817_818fs

4 papers

NM_022454.4

p.R273fs

c.817_818fs

1 paper

NM_022454.4

p.P272L

c.815C>T

2 papers

NM_022454.4

p.R273insFs

c.817dupC

1 paper

NM_022454.4

p.E277_P278del1

c.831_833delGCC

1 paper

NM_022454.4

p.M270L

c.808A>C

1 paper

NM_022454.4

p.M270L

c.808A>T

1 paper

NM_022454.4

p.P269_M270delins

c.807_808delinsAT

1 paper

NM_022454.4

p.P281S

c.841C>T

1 paper

NM_022454.4

p.P281P

c.843C>G