Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5A
Variant:p.D1202N

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.D1202N
c.3604G>A
Surrounding Variants
1 paper
NM_015473.4
p.E1213K
c.3637G>A
1 paper
NM_015473.4
p.P1221H
c.3662C>A
1 paper
NM_015473.4
p.M1256I
c.3768G>T
1 paper
NM_015473.4
p.M1256I
c.3768G>C
1 paper
NM_015473.4
p.M1256I
c.3768G>A
1 paper
NM_015473.4
p.N1263D
c.3787A>G
1 paper
NM_015473.4
p.N1263T
c.3788A>C
1 paper
NM_015473.4
p.R1302*
c.3904C>T
1 paper
NM_015473.4
p.R1302Q
c.3905G>A
1 paper
NM_015473.4
p.H1314Y
c.3940C>T
1 paper
NM_015473.4
p.L1178F
c.3532C>T
1 paper
NM_015473.4
p.K1152E
c.3454A>G
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