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

1 paper

NM_007098.4

p.A1081A

c.3243A>G

Surrounding Variants

1 paper

NM_007098.4

p.D1054N

c.3160G>A

2 papers

NM_007098.4

p.R1046C

c.3136C>T

1 paper

NM_007098.4

p.R1039L

c.3116G>T

1 paper

NM_007098.4

p.R1039Q

c.3116G>A

1 paper

NM_007098.4

p.R1037C

c.3109C>T

2 papers

NM_007098.4

p.T1031I

c.3092C>T

1 paper

NM_007098.4

p.N1023delFs

c.3068delT

6 papers

NM_007098.4

p.N1023I

c.3068A>T

1 paper

NM_007098.4

p.Q1083_V1084Splc

c.3250-94G>A

2 papers

NM_007098.4

p.E1087K

c.3259G>A

1 paper

NM_007098.4

p.N1091H

c.3271A>C

1 paper

NM_007098.4

p.R1094W

c.3280C>T