Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5A
Variant:p.G297R

HEATR5A

85 papers

Pfam Domains

Laa1_Sip1_HTR5aa 1265–1466UCSCLaa1/Sip1/HEATR5 HEAT repeat region
HEAT_HEATR5Aaa 1529–1745UCSCHEATR5A-like, HEAT repeats

Gene Aliases

HGNC Name

HEAT repeat containing 5A

HGNC Previous Symbol

C14orf125

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015473.4
p.G297R
c.889G>A
Surrounding Variants
1 paper
NM_015473.4
p.G297R
c.889G>C
1 paper
NM_015473.4
p.G308R
c.922G>C
1 paper
NM_015473.4
p.G308R
c.922G>A
1 paper
NM_015473.4
p.R266K
c.797G>A
1 paper
NM_015473.4
p.A259T
c.775G>A
1 paper
NM_015473.4
p.H335Y
c.1003C>T
1 paper
NM_015473.4
p.A340V
c.1019C>T
1 paper
NM_015473.4
p.K346insFs
c.1036_1037ins25
1 paper
NM_015473.4
p.K346_A354del9
c.1036_1061del27
1 paper
NM_015473.4
p.L365F
c.1093C>T
1 paper
NM_015473.4
p.G370S
c.1108G>A
3 papers
NM_015473.4
p.L373del1
c.1117_1119delAAG
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."