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

1 paper

NM_004859.4

p.R912K

c.2735G>A

Surrounding Variants

1 paper

NM_004859.4

p.K911N

c.2733G>C

1 paper

NM_004859.4

p.K911N

c.2733G>T

7 papers

NM_004859.4

p.D913fs

c.2737_2738fs

1 paper

NM_004859.4

p.K911insFs

c.2732_2733insAG

5 papers

NM_004859.4

p.D913insFs

c.2737_2738dupGA

1 paper

NM_004859.4

p.H915insFs

c.2744_2745insAG

2 papers

NM_004859.4

p.L916insFs

c.2746dupC

1 paper

NM_004859.4

p.L916fs

c.2746_2747fs

1 paper

NM_004859.4

p.G906E

c.2717G>A

1 paper

NM_004859.4

p.R903C

c.2707C>T

1 paper

NM_004859.4

p.E922A

c.2765A>C

1 paper

NM_004859.4

p.Y900*

c.2700T>A