Varaico: Literature-Extracted Genetic Variants

Gene:CLHC1

CLHC1

58 papers

Pfam Domains

TSNAXIP1_Naa 28–141UCSCTranslin-associated factor X-interacting N-terminus
TSNAXIP1_Naa 28–141UCSCTranslin-associated factor X-interacting N-terminus
Clathrin_H_linkaa 295–354UCSCClathrin-H-link
Clathrin_H_linkaa 295–354UCSCClathrin-H-link

Gene Aliases

HGNC Name

clathrin heavy chain linker domain containing 1

HGNC Previous Symbol

C2orf63

Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
5 papers
NM_152385.4
p.A178V
c.533C>T
5 papers
NM_152385.4
p.A503V
c.1508C>T
4 papers
NM_152385.4
p.V426I
c.1276G>A
4 papers
NM_152385.4
p.D462Splc
c.1384+2T>A
3 papers
NM_152385.4
p.T84I
c.251C>T
2 papers
NM_152385.4
p.Y53N
c.157T>A
2 papers
NM_152385.4
p.M183L
c.547A>T
2 papers
NM_152385.4
p.M183L
c.547A>C
2 papers
NM_152385.4
p.L198M
c.592T>A
2 papers
NM_152385.4
p.R326*
c.976C>T
2 papers
NM_152385.4
p.T413I
c.1238C>T
1 paper
NM_152385.4
p.S19I
c.56G>T
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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."