Varaico: Literature-Extracted Genetic Variants

CLTCL1

198 papers

RefSeq Summary

This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with...

Pfam Domains

Clathrin_propelaa 19–56UCSCClathrin propeller repeat

Clathrin_propelaa 148–187UCSCClathrin propeller repeat

Clathrin_propelaa 198–234UCSCClathrin propeller repeat

Clathrin_propelaa 253–288UCSCClathrin propeller repeat

Clathrin_propelaa 296–330UCSCClathrin propeller repeat

Clathrin-linkaa 331–354UCSCClathrin, heavy-chain linker

Gene Aliases

HGNC Name

clathrin heavy chain like 1

HGNC Alias Symbols

CLTD; CLH22; CHC22

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007098.4

p.A381T

c.1141G>A

Surrounding Variants

1 paper

NM_007098.4

p.P388_K389insGA

c.1162_1166ins6

1 paper

NM_007098.4

p.D346_R354del9

c.1036_1061del27

1 paper

NM_007098.4

p.R354H

c.1061G>A

2 papers

NM_007098.4

p.R354C

c.1060C>T

1 paper

NM_007098.4

p.A352V

c.1055C>T

1 paper

NM_007098.4

p.V335Fs

c.1003delinsGAFs

1 paper

NM_007098.4

p.V335A

c.1004T>C

2 papers

NM_007098.4

p.V335L

c.1003G>T

2 papers

NM_007098.4

p.V335L

c.1003G>C

1 paper

NM_007098.4

p.D332N

c.994G>A

1 paper

NM_007098.4

p.E331K

c.991G>A

7 papers

NM_007098.4

p.E330K

c.988G>A