Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5B
Variant:p.P64L

HEATR5B

133 papers

Pfam Domains

Laa1_Sip1_HTR5aa 1287–1493UCSCLaa1/Sip1/HEATR5 HEAT repeat region
HEAT_HEATR5Aaa 1558–1771UCSCHEATR5A-like, HEAT repeats

Gene Aliases

HGNC Name

HEAT repeat containing 5B

HGNC Alias Symbols

KIAA1414; DKFZp686P15184; p200; p200a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019024.3
p.P64L
c.191C>T
Surrounding Variants
1 paper
NM_019024.3
p.K48fs
c.142_143fs
1 paper
NM_019024.3
p.D44N
c.130G>A
1 paper
NM_019024.3
p.K42_T43Splc
c.127-1G>A
1 paper
NM_019024.3
p.Q90H
c.270G>T
1 paper
NM_019024.3
p.Q90H
c.270G>C
1 paper
NM_019024.3
p.C95W
c.285C>G
1 paper
NM_019024.3
p.R100S
c.300A>T
1 paper
NM_019024.3
p.R100S
c.300A>C
1 paper
NM_019024.3
p.A114S
c.340G>T
1 paper
NM_019024.3
p.G120R
c.358G>C
1 paper
NM_019024.3
p.G120R
c.358G>A
1 paper
NM_019024.3
p.L160P
c.479T>C
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