Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5A
Variant:p.R1117_E1119del3

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.R1117_E1119del3
c.3349_3356del9
Surrounding Variants
1 paper
NM_015473.4
p.E1119*
c.3355G>T
1 paper
NM_015473.4
p.K1114R
c.3341A>G
1 paper
NM_015473.4
p.M1111T
c.3332T>C
2 papers
NM_015473.4
p.V1090I
c.3268G>A
1 paper
NM_015473.4
p.N1067S
c.3200A>G
1 paper
NM_015473.4
p.R1005C
c.3013C>T
1 paper
NM_015473.4
p.Q1001E
c.3001C>G
1 paper
NM_015473.4
p.P993S
c.2977C>T
1 paper
NM_015473.4
p.Y975C
c.2924A>G
1 paper
NM_015473.4
p.Y974fs
c.2920_2921fs
1 paper
NM_015473.4
p.Y974delFs
c.2921delT
1 paper
NM_015473.4
p.L973_Y974ins1
c.2919_2920insACA
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