Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5A
Variant:p.H817D

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.H817D
c.2449C>G
Surrounding Variants
1 paper
NM_015473.4
p.E809G
c.2426A>G
1 paper
NM_015473.4
p.E851G
c.2552A>G
2 papers
NM_015473.4
p.M853T
c.2558T>C
1 paper
NM_015473.4
p.A876V
c.2627C>T
2 papers
NM_015473.4
p.V886M
c.2656G>A
1 paper
NM_015473.4
p.V886delFs
c.2656delC
1 paper
NM_015473.4
p.V886fs
c.2656_2657fs
1 paper
NM_015473.4
p.S900R
c.2698A>C
1 paper
NM_015473.4
p.S900R
c.2700C>G
1 paper
NM_015473.4
p.S900R
c.2700C>A
1 paper
NM_015473.4
p.S962Y
c.2885C>A
1 paper
NM_015473.4
p.L973_Y974ins1
c.2919_2920insACA
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."