Varaico: Literature-Extracted Genetic Variants

Gene:BLTP3A
Variant:p.I1330fs

BLTP3A

107 papers

Pfam Domains

BLTP3A_Baa 1–1435UCSCBridge-like lipid transfer protein family member 3A/B

Gene Aliases

HGNC Name

bridge-like lipid transfer protein family member 3A

HGNC Previous Symbols

C6orf107; UHRF1BP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017754.4
p.I1330fs
c.3988_3989fs
Surrounding Variants
1 paper
NM_017754.4
p.I1330insFs
c.3990dupC
1 paper
NM_017754.4
p.I1333fs
c.3997_3998fs
1 paper
NM_017754.4
p.V1359M
c.4075G>A
1 paper
NM_017754.4
p.I1362V
c.4084A>G
1 paper
NM_017754.4
p.R1380T
c.4139G>C
1 paper
NM_017754.4
p.P1382fs
c.4144_4145fs
1 paper
NM_017754.4
p.P1273P
c.3819C>A
1 paper
NM_017754.4
p.S1272P
c.3814T>C
1 paper
NM_017754.4
p.V1228M
c.3682G>A
1 paper
NM_017754.4
p.E1219V
c.3656A>T
1 paper
NM_017754.4
p.D1210insFs
c.3628_3629ins8
1 paper
NM_017754.4
p.R1207H
c.3620G>A
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