Varaico: Literature-Extracted Genetic Variants

Gene:BPHL
Variant:p.W94R

BPHL

24 papers

RefSeq Summary

This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug v...

Pfam Domains

Abhydrolase_1aa 61–204UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

biphenyl hydrolase like

HGNC Previous Symbol

MCNAA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004332.4
p.W94R
c.280T>C
Surrounding Variants
1 paper
NM_004332.4
p.W94R
c.280T>A
1 paper
NM_004332.4
p.R97*
c.289C>T
1 paper
NM_004332.4
p.N85H
c.253A>C
1 paper
NM_004332.4
p.R107C
c.319C>T
1 paper
NM_004332.4
p.G71Splc
c.212-2A>G
1 paper
NM_004332.4
p.D123N
c.367G>A
1 paper
NM_004332.4
p.D123A
c.368A>C
2 papers
NM_004332.4
p.K126_A127Splc
c.378+2T>C
2 papers
NM_004332.4
p.A164T
c.490G>A
1 paper
NM_004332.4
p.Q55L
c.164A>T
1 paper
NM_004332.4
p.V49I
c.145G>A
1 paper
NM_004332.4
p.G48G
c.144C>T
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