Varaico: Literature-Extracted Genetic Variants

Gene:PICALM
Variant:p.H465R

PICALM

174 papers

RefSeq Summary

This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein...

Pfam Domains

ANTHaa 21–284UCSCANTH domain

Gene Aliases

HGNC Name

phosphatidylinositol binding clathrin assembly protein

HGNC Alias Symbol

CLTH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_007166.4
p.H465R
c.1394A>G
Surrounding Variants
1 paper
NM_007166.4
p.T459N
c.1376C>A
1 paper
NM_007166.4
p.V455L
c.1363G>T
1 paper
NM_007166.4
p.V455L
c.1363G>C
1 paper
NM_007166.4
p.D454Y
c.1360G>T
1 paper
NM_007166.4
p.S453*
c.1358C>G
1 paper
NM_007166.4
p.S453*
c.1358C>A
1 paper
NM_007166.4
p.V447F
c.1339G>T
1 paper
NM_007166.4
p.S444G
c.1330A>G
2 papers
NM_007166.4
p.D430V
c.1289A>T
1 paper
NM_007166.4
p.G470A
c.1409G>C
1 paper
NM_007166.4
p.P481H
c.1442C>A
1 paper
NM_007166.4
p.F489L
c.1467T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."