Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5A

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
1–12 of 110 variants
3 papers
NM_015473.4
p.L373del1
c.1117_1119delAAG
2 papers
NM_015473.4
p.K125delFs
c.373delT
2 papers
NM_015473.4
p.M853T
c.2558T>C
2 papers
NM_015473.4
p.V886M
c.2656G>A
2 papers
NM_015473.4
p.V1090I
c.3268G>A
2 papers
NM_015473.4
p.R1117_E1119del3
c.3349_3356del9
2 papers
NM_015473.4
p.G1676R
c.5026G>C
2 papers
NM_015473.4
p.G1676R
c.5026G>A
2 papers
NM_015473.4
p.L1909M
c.5725C>A
1 paper
NM_015473.4
p.E2*
c.4G>T
1 paper
NM_015473.4
p.L7insFs
c.19_20ins23
1 paper
NM_015473.4
p.L33insFs
c.97_98ins23
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