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.K637R

c.1910A>G

Surrounding Variants

1 paper

NM_007098.4

p.V641L

c.1921G>C

1 paper

NM_007098.4

p.E628D

c.1884G>T

1 paper

NM_007098.4

p.E628D

c.1884G>C

1 paper

NM_007098.4

p.G621D

c.1862G>A

2 papers

NM_007098.4

p.E618E

c.1854G>A

1 paper

NM_007098.4

p.L616F

c.1846C>T

1 paper

NM_007098.4

p.H607R

c.1820A>G

1 paper

NM_007098.4

p.Q594_V595Splc

c.1783-1G>A

1 paper

NM_007098.4

p.V652F

c.1954G>T

2 papers

NM_007098.4

p.G656C

c.1966G>T

1 paper

NM_007098.4

p.S657Y

c.1970C>A

1 paper

NM_007098.4

p.S659L

c.1976C>T