Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.G48E

PRH2

2,897 papers

RefSeq Summary

This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before...

Gene Aliases

HGNC Name

proline rich protein HaeIII subfamily 2

HGNC Alias Symbol

Pr

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001110213.1
p.G48E
c.143G>A
Surrounding Variants
1 paper
NM_001110213.1
p.G48V
c.143G>T
1 paper
NM_001110213.1
p.P49delFs
c.145delC
1 paper
NM_001110213.1
p.G48R
c.142G>A
1 paper
NM_001110213.1
p.G48insFs
c.142_143ins44
1 paper
NM_001110213.1
p.P49T
c.145C>A
2 papers
NM_001110213.1
p.P49A
c.145C>G
1 paper
NM_001110213.1
p.Q47Q
c.141G>A
1 paper
NM_001110213.1
p.Q47P
c.140A>C
1 paper
NM_001110213.1
p.Q47R
c.140A>G
2 papers
NM_001110213.1
p.P49L
c.146C>T
1 paper
NM_001110213.1
p.P49delFs
c.147delA
1 paper
NM_001110213.1
p.P49P
c.147A>T
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