Varaico: Literature-Extracted Genetic Variants

Gene:R3HDM4

R3HDM4

17 papers

Pfam Domains

R3H-assocaa 46–182UCSCR3H-associated N-terminal domain
R3Haa 188–248UCSCR3H domain

Gene Aliases

HGNC Name

R3H domain containing 4

HGNC Previous Symbol

C19orf22

Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
2 papers
NM_138774.4
p.Q206fs
c.616_617fs
1 paper
NM_138774.4
p.V55M
c.163G>A
1 paper
NM_138774.4
p.V61M
c.181G>A
1 paper
NM_138774.4
p.N75S
c.224A>G
1 paper
NM_138774.4
p.L89P
c.266T>C
1 paper
NM_138774.4
p.L89L
c.267G>A
1 paper
NM_138774.4
p.V118A
c.353T>C
1 paper
NM_138774.4
p.W119C
c.357G>T
1 paper
NM_138774.4
p.W119C
c.357G>C
1 paper
NM_138774.4
p.N120K
c.360C>A
1 paper
NM_138774.4
p.N124K
c.372C>G
1 paper
NM_138774.4
p.E129*
c.385G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."