Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5A
Variant:p.K125delFs

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.K125delFs
c.373delT
Surrounding Variants
1 paper
NM_015473.4
p.L130V
c.388C>G
1 paper
NM_015473.4
p.V116_C118del0
c.346_354del9
1 paper
NM_015473.4
p.T135I
c.404C>T
1 paper
NM_015473.4
p.L71R
c.212T>G
1 paper
NM_015473.4
p.S159N
c.476G>A
1 paper
NM_015473.4
p.L38M
c.112T>A
1 paper
NM_015473.4
p.L33insFs
c.97_98ins23
1 paper
NM_015473.4
p.L7insFs
c.19_20ins23
1 paper
NM_015473.4
p.E2*
c.4G>T
1 paper
NM_015473.4
p.A259T
c.775G>A
1 paper
NM_015473.4
p.R266K
c.797G>A
1 paper
NM_015473.4
p.G297R
c.889G>C
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