Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5B
Variant:p.G1593Splc

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.G1593Splc
c.4778-94A>G
Surrounding Variants
3 papers
NM_019024.3
p.S1601A
c.4801T>G
1 paper
NM_019024.3
p.P1607P
c.4821C>A
1 paper
NM_019024.3
p.E1582K
c.4744G>A
1 paper
NM_019024.3
p.A1577T
c.4729G>A
1 paper
NM_019024.3
p.S1576I
c.4727G>T
1 paper
NM_019024.3
p.A1534V
c.4601C>T
1 paper
NM_019024.3
p.T1513S
c.4538C>G
1 paper
NM_019024.3
p.T1513S
c.4537A>T
1 paper
NM_019024.3
p.F1511C
c.4532T>G
1 paper
NM_019024.3
p.H1646Y
c.4936C>T
2 papers
NM_019024.3
p.R1647H
c.4940G>A
2 papers
NM_019024.3
p.W1652R
c.4954T>C
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