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_001288653.2

p.A1217_A1218del1

c.3650_3652delCTG

Surrounding Variants

1 paper

NM_004859.4

p.Y1211_D1212del1

c.3633_3635delTGA

1 paper

NM_004859.4

p.M1210_Y1211del1

c.3629_3631delTGT

1 paper

NM_004859.4

p.M1210_Y1211del2

c.3628_3632del6

3 papers

NM_001288653.2

p.L1221_Y1222del1

c.3662_3664delTGT

NM_004859.4

p.L1221del1

c.3661_3662delTTG

9 papers

NM_004859.4

p.D1207del1

c.3619_3620delGAT

NM_001288653.2

p.D1207_E1208del1

c.3621_3623delTGA

1 paper

NM_004859.4

p.R1204C

c.3610C>T

2 papers

NM_004859.4

p.V1221_S1222del1

c.3662_3664delTTT

1 paper

NM_001288653.2

p.D1207_R1208del1

c.3621_3623delCCG

1 paper

NM_001288653.2

p.D1207del1

c.3619_3620delGAC

1 paper

NM_004859.4

p.V1201fs

c.3601_3602fs

1 paper

NM_004859.4

p.Q1200_V1201Splc

c.3601-2A>G

1 paper

NM_004859.4

p.V1201delFs

c.3601delG