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

6 papers

NM_007098.4

p.M1316V

c.3946A>G

Surrounding Variants

1 paper

NM_007098.4

p.F1317L

c.3949T>C

1 paper

NM_007098.4

p.F1317L

c.3951C>G

1 paper

NM_007098.4

p.F1317L

c.3951C>A

1 paper

NM_007098.4

p.R1311Q

c.3932G>A

1 paper

NM_007098.4

p.A1321T

c.3961G>A

1 paper

NM_007098.4

p.E1310K

c.3928G>A

1 paper

NM_007098.4

p.L1323F

c.3967C>T

1 paper

NM_007098.4

p.G1308A

c.3923G>C

2 papers

NM_007098.4

p.A1306S

c.3916G>T

1 paper

NM_007098.4

p.E1304Q

c.3910G>C

1 paper

NM_007098.4

p.Q1330H

c.3990G>T

1 paper

NM_007098.4

p.Q1330H

c.3990G>C