Varaico: Literature-Extracted Genetic Variants

Gene:BLTP3A
Variant:p.R1207H

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
1 paper
NM_017754.4
p.R1207H
c.3620G>A
Surrounding Variants
1 paper
NM_017754.4
p.R1207C
c.3619C>T
1 paper
NM_017754.4
p.D1210insFs
c.3628_3629ins8
1 paper
NM_017754.4
p.E1219V
c.3656A>T
1 paper
NM_017754.4
p.V1228M
c.3682G>A
1 paper
NM_017754.4
p.P1172T
c.3514C>A
1 paper
NM_017754.4
p.S1171L
c.3512C>T
1 paper
NM_017754.4
p.A1156D
c.3467C>A
1 paper
NM_017754.4
p.L1134V
c.3400C>G
1 paper
NM_017754.4
p.D1129N
c.3385G>A
1 paper
NM_017754.4
p.T1101T
c.3303G>A
1 paper
NM_017754.4
p.S1272P
c.3814T>C
1 paper
NM_017754.4
p.P1273P
c.3819C>A
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