Varaico: Literature-Extracted Genetic Variants

Gene:CLHC1
Variant:p.L198M

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
Selected Variant
2 papers
NM_152385.4
p.L198M
c.592T>A
Surrounding Variants
1 paper
NM_152385.4
p.K189R
c.566A>G
1 paper
NM_152385.4
p.L210delFs
c.628_629delAA
2 papers
NM_152385.4
p.M183L
c.547A>T
2 papers
NM_152385.4
p.M183L
c.547A>C
5 papers
NM_152385.4
p.A178V
c.533C>T
1 paper
NM_152385.4
p.R220W
c.658C>T
1 paper
NM_152385.4
p.G167S
c.499G>A
1 paper
NM_152385.4
p.R286H
c.857G>A
1 paper
NM_152385.4
p.H296R
c.887A>G
1 paper
NM_152385.4
p.H296Q
c.888C>G
1 paper
NM_152385.4
p.H296Q
c.888C>A
1 paper
NM_152385.4
p.G167S
c.499G>A
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