Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.I444fs

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
1 paper
NM_014495.4
p.I444fs
c.1330_1331fs
Surrounding Variants
1 paper
NM_014495.4
p.Y442H
c.1324T>C
1 paper
NM_014495.4
p.S446P
c.1336T>C
2 papers
NM_014495.4
p.K448E
c.1342A>G
1 paper
NM_014495.4
p.G439V
c.1316G>T
5 papers
NM_014495.4
p.G439_Y442del4
c.1315_1325del12
1 paper
NM_014495.4
p.Q437L
c.1310A>T
1 paper
NM_014495.4
p.L450F
c.1350G>C
1 paper
NM_014495.4
p.L450F
c.1350G>T
1 paper
NM_014495.4
p.I451T
c.1352T>C
1 paper
NM_014495.4
p.P453R
c.1358C>G
1 paper
NM_014495.4
p.W434*
c.1302G>A
1 paper
NM_014495.4
p.W434*
c.1301G>A
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