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.I882V

c.2644A>G

Surrounding Variants

1 paper

NM_004859.4

p.I882T

c.2645T>C

1 paper

NM_004859.4

p.K881R

c.2642A>G

1 paper

NM_004859.4

p.A878A

c.2634C>T

1 paper

NM_004859.4

p.N887insFs

c.2660_2661insC

1 paper

NM_004859.4

p.H876Q

c.2628C>A

1 paper

NM_004859.4

p.H876Q

c.2628C>G

12 papers

NM_004859.4

p.P890L

c.2669C>T

1 paper

NM_004859.4

p.L894V

c.2680C>G

1 paper

NM_004859.4

p.L894F

c.2680C>T

1 paper

NM_004859.4

p.R895C

c.2683C>T

1 paper

NM_004859.4

p.E868Q

c.2602G>C

1 paper

NM_004859.4

p.H867Q

c.2601T>A