Varaico: Literature-Extracted Genetic Variants

CLTC

273 papers

RefSeq Summary

Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular traffi...

Pfam Domains

Clathrin_propelaa 19–56UCSCClathrin propeller repeat

Clathrin_propelaa 152–191UCSCClathrin propeller repeat

Clathrin_propelaa 202–238UCSCClathrin propeller repeat

Clathrin_propelaa 257–292UCSCClathrin propeller repeat

Clathrin_propelaa 300–334UCSCClathrin propeller repeat

Clathrin-linkaa 335–358UCSCClathrin, heavy-chain linker

Gene Aliases

HGNC Name

clathrin heavy chain

HGNC Previous Symbol

CLTCL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004859.4

p.K1535_D1536Splc

c.4605+2T>C

Surrounding Variants

1 paper

NM_004859.4

p.E1526fs

c.4576_4577fs

4 papers

NM_004859.4

p.E1526fs

c.4576_4577fs

4 papers

NM_004859.4

p.V1525insFs

c.4575dupA

1 paper

NM_004859.4

p.A1511T

c.4531G>A

1 paper

NM_004859.4

p.R1498H

c.4493G>A

1 paper

NM_004859.4

p.A1496G

c.4487C>G

1 paper

NM_004859.4

p.S1494delFs

c.4481delC

2 papers

NM_004859.4

p.S1494fs

c.4480_4481fs

1 paper

NM_004859.4

p.N1492K

c.4476T>A

1 paper

NM_004859.4

p.N1492K

c.4476T>G

1 paper

NM_001288653.2

p.F1494delFs

c.4481delT

4 papers

NM_004859.4

p.Q1539*

c.4615C>T