Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5B

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
1–12 of 153 variants
4 papers
NM_019024.3
p.V313F
c.937G>T
3 papers
NM_019024.3
p.S1601A
c.4801T>G
3 papers
NM_019024.3
p.G1826A
c.5477G>C
2 papers
NM_019024.3
p.R176C
c.526C>T
2 papers
NM_019024.3
p.R301C
c.901C>T
2 papers
NM_019024.3
p.V428V
c.1284G>C
2 papers
NM_019024.3
p.A435T
c.1303G>A
2 papers
NM_019024.3
p.R1647H
c.4940G>A
2 papers
NM_019024.3
p.W1652R
c.4954T>C
2 papers
NM_019024.3
p.W1652R
c.4954T>A
2 papers
NM_019024.3
p.Q1667Q
c.5001G>A
2 papers
NM_019024.3
p.N1684Splc
c.5051-1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."