Varaico: Literature-Extracted Genetic Variants

Gene:CLTCL1

CLTCL1

198 papers

RefSeq Summary

This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with...

Pfam Domains

Clathrin_propelaa 19–56UCSCClathrin propeller repeat
Clathrin_propelaa 148–187UCSCClathrin propeller repeat
Clathrin_propelaa 198–234UCSCClathrin propeller repeat
Clathrin_propelaa 253–288UCSCClathrin propeller repeat
Clathrin_propelaa 296–330UCSCClathrin propeller repeat
Clathrin-linkaa 331–354UCSCClathrin, heavy-chain linker

Gene Aliases

HGNC Name

clathrin heavy chain like 1

HGNC Alias Symbols

CLTD; CLH22; CHC22

Papers
RefSeq ID
Protein change
DNA change
1–12 of 275 variants
10 papers
NM_007098.4
p.V1201insFs
c.3601_3602insG
10 papers
NM_007098.4
p.V1201fs
c.3601_3602fs
7 papers
NM_007098.4
p.V44F
c.130G>T
7 papers
NM_007098.4
p.E330K
c.988G>A
6 papers
NM_007098.4
p.N1023I
c.3068A>T
6 papers
NM_007098.4
p.M1316V
c.3946A>G
4 papers
NM_007098.4
p.L448I
c.1342C>A
3 papers
NM_007098.4
p.F702Y
c.2105T>A
3 papers
NM_007098.4
p.R811W
c.2431C>T
3 papers
NM_007098.4
p.K1163R
c.3488A>G
3 papers
NM_007098.4
p.R1165C
c.3493C>T
3 papers
NM_007098.4
p.Q1199*
c.3595C>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."