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

3 papers

NM_007098.4

p.R1165C

c.3493C>T

Surrounding Variants

1 paper

NM_007098.4

p.K1163insFs

c.3488dupA

3 papers

NM_007098.4

p.K1163R

c.3488A>G

1 paper

NM_007098.4

p.I1174fs

c.3520_3521fs

1 paper

NM_007098.4

p.F1175S

c.3524T>C

1 paper

NM_007098.4

p.I1174delFs

c.3521delA

2 papers

NM_007098.4

p.D1188E

c.3564T>G

2 papers

NM_007098.4

p.D1188E

c.3564T>A

1 paper

NM_007098.4

p.P1193H

c.3578C>A

1 paper

NM_007098.4

p.N1195D

c.3583A>G

3 papers

NM_007098.4

p.Q1199*

c.3595C>T

1 paper

NM_007098.4

p.N1126S

c.3377A>G

1 paper

NM_007098.4

p.A1124T

c.3370G>A