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.V1201G

c.3602T>G

Surrounding Variants

10 papers

NM_007098.4

p.V1201insFs

c.3601_3602insG

10 papers

NM_007098.4

p.V1201fs

c.3601_3602fs

1 paper

NM_007098.4

p.V1201fs

c.3601_3602fs

1 paper

NM_007098.4

p.G1202fs

c.3604_3605fs

1 paper

NM_007098.4

p.Y1206*

c.3618C>G

1 paper

NM_007098.4

p.Y1206*

c.3618C>A

1 paper

NM_007098.4

p.G1209*

c.3625G>T

1 paper

NM_007098.4

p.R1226H

c.3677G>A

1 paper

NM_007098.4

p.V1232I

c.3694G>A

1 paper

NM_007098.4

p.A1240T

c.3718G>A

1 paper

NM_007098.4

p.R1245H

c.3734G>A

1 paper

NM_007098.4

p.G1273V

c.3818G>T