Varaico: Literature-Extracted Genetic Variants

SOX18

83 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 85–153UCSCHMG (high mobility group) box

Sox17_18_midaa 197–249UCSCSox 17/18 central domain

Gene Aliases

HGNC Name

SRY-box transcription factor 18

HGNC Previous Names

SRY (sex determining region Y)-box 18; SRY-box 18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018419.3

p.P290L

c.869C>T

Surrounding Variants

1 paper

NM_018419.3

p.P290delFs

c.868delG

1 paper

NM_018419.3

p.G285R

c.853G>C

1 paper

NM_018419.3

p.P296L

c.887C>T

1 paper

NM_018419.3

p.P304Q

c.911C>A

1 paper

NM_018419.3

p.E307K

c.919G>A

1 paper

NM_018419.3

p.A267A

c.801G>A

1 paper

NM_018419.3

p.A267T

c.799G>A

1 paper

NM_018419.3

p.P314L

c.941C>T

2 papers

NM_018419.3

p.A316S

c.946G>T

1 paper

NM_018419.3

p.G263insFs

c.788dupG

1 paper

NM_018419.3

p.L318Q

c.953T>A

1 paper

NM_018419.3

p.W319R

c.955T>C