Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5A
Variant:p.L1909M

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
2 papers
NM_015473.4
p.L1909M
c.5725C>A
Surrounding Variants
1 paper
NM_015473.4
p.C1904S
c.5711G>C
1 paper
NM_015473.4
p.C1904S
c.5710T>A
1 paper
NM_015473.4
p.S2019G
c.6055A>G
1 paper
NM_015473.4
p.K1870E
c.5608A>G
1 paper
NM_015473.4
p.F1863fs
c.5587_5588fs
1 paper
NM_015473.4
p.I1852V
c.5554A>G
1 paper
NM_015473.4
p.L1790delFs
c.5369delA
1 paper
NM_015473.4
p.L1790fs
c.5368_5369fs
1 paper
NM_015473.4
p.G1788V
c.5363G>T
1 paper
NM_015473.4
p.I1760I
c.5280C>T
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