Varaico: Literature-Extracted Genetic Variants

Gene:BLTP3A
Variant:p.W408*

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.W408*
c.1224G>A
Surrounding Variants
1 paper
NM_017754.4
p.W408*
c.1223G>A
3 papers
NM_017754.4
p.R427Q
c.1280G>A
1 paper
NM_017754.4
p.S434delins
c.1300_1301delinsTA
1 paper
NM_017754.4
p.Q454*
c.1360C>T
7 papers
NM_017754.4
p.Q454R
c.1361A>G
1 paper
NM_017754.4
p.Q454L
c.1361A>T
1 paper
NM_017754.4
p.R462C
c.1384C>T
1 paper
NM_017754.4
p.V467M
c.1399G>A
1 paper
NM_017754.4
p.W372R
c.1114T>A
1 paper
NM_017754.4
p.W372R
c.1114T>C
1 paper
NM_017754.4
p.A364V
c.1091C>T
1 paper
NM_017754.4
p.T490I
c.1469C>T
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