Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5B
Variant:p.R470H

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.R470H
c.1409G>A
Surrounding Variants
1 paper
NM_019024.3
p.T481A
c.1441A>G
1 paper
NM_019024.3
p.D485E
c.1455C>G
1 paper
NM_019024.3
p.D485E
c.1455C>A
1 paper
NM_019024.3
p.A488V
c.1463C>T
1 paper
NM_019024.3
p.N492S
c.1475A>G
1 paper
NM_019024.3
p.L446F
c.1336C>T
1 paper
NM_019024.3
p.G514E
c.1541G>A
1 paper
NM_019024.3
p.K526I
c.1577A>T
1 paper
NM_019024.3
p.S436F
c.1307C>T
2 papers
NM_019024.3
p.A435T
c.1303G>A
1 paper
NM_019024.3
p.T434T
c.1302C>T
2 papers
NM_019024.3
p.V428V
c.1284G>C
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