Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.D41D

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.D41D
c.123C>T
Surrounding Variants
1 paper
NM_014495.4
p.D41G
c.122A>G
3 papers
NM_014495.4
p.D42N
c.124G>A
1 paper
NM_014495.4
p.D42A
c.125A>C
2 papers
NM_014495.4
p.D41N
c.121G>A
2 papers
NM_014495.4
p.V43I
c.127G>A
1 paper
NM_014495.4
p.V43A
c.128T>C
1 paper
NM_014495.4
p.L40delFs
c.118delT
1 paper
NM_014495.4
p.M39T
c.116T>C
1 paper
NM_014495.4
p.K44N
c.132A>T
1 paper
NM_014495.4
p.I45delFs
c.133_134delAT
1 paper
NM_014495.4
p.I45V
c.133A>G
1 paper
NM_014495.4
p.A38D
c.113C>A
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