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

2 papers

NM_004859.4

p.Q1083_V1084Splc

c.3249+1G>C

Surrounding Variants

1 paper

NM_004859.4

p.Q1083H

c.3249G>C

1 paper

NM_004859.4

p.Q1083_V1084insFs

c.3249_3250insGT

1 paper

NM_004859.4

p.Q1083H

c.3249G>T

1 paper

NM_004859.4

p.Q1083fs

c.3247_3248fs

1 paper

NM_004859.4

p.V1082V

c.3246T>G

1 paper

NM_004859.4

p.T1079A

c.3235A>G

1 paper

NM_004859.4

p.N1078K

c.3234T>A

1 paper

NM_004859.4

p.N1078K

c.3234T>G

1 paper

NM_004859.4

p.R1073Q

c.3218G>A

1 paper

NM_004859.4

p.E1066K

c.3196G>A

1 paper

NM_004859.4

p.E1063K

c.3187G>A

5 papers

NM_004859.4

p.L1047P

c.3140T>C