Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.R332Q

ANGPTL3

186 papers

RefSeq Summary

This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal c...

Pfam Domains

Fibrinogen_Caa 242–454UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

angiopoietin like 3

HGNC Previous Symbol

ANGPT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_014495.4
p.R332Q
c.995G>A
Surrounding Variants
1 paper
NM_014495.4
p.R332*
c.994C>T
1 paper
NM_014495.4
p.I333F
c.997A>T
5 papers
NM_014495.4
p.I333S
c.998T>G
1 paper
NM_014495.4
p.L335M
c.1003T>A
2 papers
NM_014495.4
p.L335L
c.1003T>C
1 paper
NM_014495.4
p.D337Y
c.1009G>T
1 paper
NM_014495.4
p.S327_N328del1
c.980_982delCTA
1 paper
NM_014495.4
p.Q326H
c.978A>T
1 paper
NM_014495.4
p.Q326K
c.976C>A
1 paper
NM_014495.4
p.I323V
c.967A>G
2 papers
NM_014495.4
p.H343R
c.1028A>G
1 paper
NM_014495.4
p.Y321N
c.961T>A
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