Varaico: Literature-Extracted Genetic Variants

Gene:CLHC1
Variant:p.N485S

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
1 paper
NM_152385.4
p.N485S
c.1454A>G
Surrounding Variants
5 papers
NM_152385.4
p.A503V
c.1508C>T
1 paper
NM_152385.4
p.T559M
c.1676C>T
1 paper
NM_152385.4
p.L562F
c.1684C>T
4 papers
NM_152385.4
p.D462Splc
c.1384+2T>A
4 papers
NM_152385.4
p.V426I
c.1276G>A
2 papers
NM_152385.4
p.T413I
c.1238C>T
2 papers
NM_001135598.2
p.R260Q
c.779G>A
NM_152385.4
p.R382Q
c.1145G>A
1 paper
NM_152385.4
p.A367V
c.1100C>T
1 paper
NM_152385.4
p.C363F
c.1088G>T
1 paper
NM_152385.4
p.A360T
c.1078G>A
1 paper
NM_152385.4
p.S358C
c.1072A>T
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