Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5A
Variant:p.T1675I

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.T1675I
c.5024C>T
Surrounding Variants
2 papers
NM_015473.4
p.G1676R
c.5026G>C
2 papers
NM_015473.4
p.G1676R
c.5026G>A
1 paper
NM_015473.4
p.K1673fs
c.5017_5018fs
1 paper
NM_015473.4
p.K1673delFs
c.5018delT
1 paper
NM_015473.4
p.T1716R
c.5147C>G
1 paper
NM_015473.4
p.L1721P
c.5162T>C
1 paper
NM_015473.4
p.V1742M
c.5224G>A
1 paper
NM_015473.4
p.I1760I
c.5280C>T
1 paper
NM_015473.4
p.G1788V
c.5363G>T
1 paper
NM_015473.4
p.L1790fs
c.5368_5369fs
1 paper
NM_015473.4
p.L1790delFs
c.5369delA
1 paper
NM_015473.4
p.A1577E
c.4730C>A
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