Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_007098.4

p.V777M

c.2329G>A

Surrounding Variants

2 papers

NM_007098.4

p.L787F

c.2359C>T

1 paper

NM_007098.4

p.R793C

c.2377C>T

1 paper

NM_007098.4

p.R798fs

c.2392_2393fs

1 paper

NM_007098.4

p.R798delFs

c.2392_2393delCT

1 paper

NM_007098.4

p.I802M

c.2406C>G

1 paper

NM_007098.4

p.Q805*

c.2413C>T

3 papers

NM_007098.4

p.R811W

c.2431C>T

1 paper

NM_007098.4

p.R811Q

c.2432G>A

1 paper

NM_007098.4

p.A835T

c.2503G>A

2 papers

NM_007098.4

p.D843E

c.2529T>G

2 papers

NM_007098.4

p.D843E

c.2529T>A

1 paper

NM_007098.4

p.V846L

c.2536G>T