Varaico: Literature-Extracted Genetic Variants

Gene:CLHC1
Variant:p.S41R

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.S41R
c.121A>C
Surrounding Variants
1 paper
NM_152385.4
p.S41R
c.123T>G
1 paper
NM_152385.4
p.S41R
c.123T>A
1 paper
NM_152385.4
p.G39G
c.117C>A
1 paper
NM_152385.4
p.A46S
c.136G>T
1 paper
NM_152385.4
p.I32delFs
c.96delA
1 paper
NM_152385.4
p.I32fs
c.94_95fs
2 papers
NM_152385.4
p.Y53N
c.157T>A
1 paper
NM_152385.4
p.Q28Q
c.84A>G
1 paper
NM_152385.4
p.N55D
c.163A>G
1 paper
NM_152385.4
p.D58_K59insT
c.172_176ins3
1 paper
NM_152385.4
p.E22G
c.65A>G
1 paper
NM_152385.4
p.D20fs
c.58_59fs
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