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.L433*

c.1298T>A

Surrounding Variants

1 paper

NM_007098.4

p.L433*

c.1298T>G

1 paper

NM_007098.4

p.R444H

c.1331G>A

1 paper

NM_007098.4

p.G419R

c.1255G>C

1 paper

NM_007098.4

p.G419R

c.1255G>A

4 papers

NM_007098.4

p.L448I

c.1342C>A

1 paper

NM_007098.4

p.E454K

c.1360G>A

1 paper

NM_007098.4

p.D455Y

c.1363G>T

1 paper

NM_007098.4

p.S408Y

c.1223C>A

1 paper

NM_007098.4

p.Q407E

c.1219C>G

1 paper

NM_007098.4

p.I404T

c.1211T>C

1 paper

NM_007098.4

p.S403R

c.1209T>A

1 paper

NM_007098.4

p.E396D

c.1188G>T