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.F1258F

c.3774C>T

Surrounding Variants

2 papers

NM_004859.4

p.C1260R

c.3778T>C

2 papers

NM_004859.4

p.E1255_V1256Splc

c.3766-2A>G

1 paper

NM_004859.4

p.D1262N

c.3784G>A

1 paper

NM_004859.4

p.E1265*

c.3793G>T

1 paper

NM_004859.4

p.H1275Q

c.3825T>A

1 paper

NM_004859.4

p.H1275Q

c.3825T>G

1 paper

NM_001288653.2

p.V1281L

c.3841G>C

1 paper

NM_004859.4

p.H1279Q

c.3837T>A

1 paper

NM_004859.4

p.H1279Q

c.3837T>G

1 paper

NM_004859.4

p.D1281H

c.3841G>C

NM_001288653.2

p.D1285H

c.3853G>C

1 paper

NM_004859.4

p.E1282K

c.3844G>A

1 paper

NM_004859.4

p.E1285Q

c.3853G>C