Varaico: Literature-Extracted Genetic Variants

Gene:CLTC

CLTC

273 papers

RefSeq Summary

Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular traffi...

Pfam Domains

Clathrin_propelaa 19–56UCSCClathrin propeller repeat
Clathrin_propelaa 152–191UCSCClathrin propeller repeat
Clathrin_propelaa 202–238UCSCClathrin propeller repeat
Clathrin_propelaa 257–292UCSCClathrin propeller repeat
Clathrin_propelaa 300–334UCSCClathrin propeller repeat
Clathrin-linkaa 335–358UCSCClathrin, heavy-chain linker

Gene Aliases

HGNC Name

clathrin heavy chain

HGNC Previous Symbol

CLTCL2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 414 variants
12 papers
NM_004859.4
p.P890L
c.2669C>T
8 papers
NM_004859.4
p.D1207del1
c.3619_3620delGAT
7 papers
NM_004859.4
p.D913fs
c.2737_2738fs
5 papers
NM_004859.4
p.D913insFs
c.2737_2738dupGA
5 papers
NM_004859.4
p.L1047P
c.3140T>C
4 papers
NM_004859.4
p.W1108R
c.3322T>A
4 papers
NM_004859.4
p.W1108R
c.3322T>C
4 papers
NM_004859.4
p.V1525insFs
c.4575dupA
4 papers
NM_004859.4
p.E1526fs
c.4576_4577fs
4 papers
NM_004859.4
p.Q1539*
c.4615C>T
4 papers
NM_004859.4
p.C1573S
c.4717T>A
4 papers
NM_004859.4
p.C1573S
c.4718G>C
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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."