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.R167del1

c.499_500delCCG

Surrounding Variants

1 paper

NM_018419.3

p.E169*

c.505G>T

3 papers

NM_018419.3

p.E169fs

c.505_506fs

1 paper

NM_018419.3

p.E169G

c.506A>G

4 papers

NM_018419.3

p.K164_E169insFs

c.492_505dup14

1 paper

NM_018419.3

p.R167W

c.499C>T

1 paper

NM_018419.3

p.R163_P170delFs

c.489_510del22

1 paper

NM_018419.3

p.R167_L174delFs

c.499_520del22

8 papers

NM_018419.3

p.Q161*

c.481C>T

1 paper

NM_018419.3

p.G176*

c.526G>T

1 paper

NM_018419.3

p.R158_K159Fs

c.474_476delinsAGFs

1 paper

NM_018419.3

p.A178P

c.532G>C

1 paper

NM_018419.3

p.R158H

c.473G>A