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.E1560D

c.4680A>T

Surrounding Variants

1 paper

NM_004859.4

p.E1560D

c.4680A>C

2 papers

NM_004859.4

p.K1562_R1563delFs

c.4686_4687delAA

1 paper

NM_004859.4

p.L1558L

c.4672T>C

2 papers

NM_004859.4

p.E1564fs

c.4690_4691fs

2 papers

NM_004859.4

p.W1556*

c.4668G>A

1 paper

NM_004859.4

p.E1564D

c.4692G>C

1 paper

NM_004859.4

p.E1564D

c.4692G>T

3 papers

NM_004859.4

p.W1556*

c.4667G>A

2 papers

NM_004859.4

p.Q1555*

c.4663C>T

4 papers

NM_004859.4

p.C1573S

c.4717T>A

4 papers

NM_004859.4

p.C1573S

c.4718G>C

1 paper

NM_004859.4

p.E1548*

c.4642G>T