Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q47delFs

PRH1

3,069 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...

Pfam Domains

Pro-richaa 1–128UCSCProline-rich protein
Pro-richaa 1–166UCSCProline-rich protein
Pro-richaa 1–166UCSCProline-rich protein

Gene Aliases

HGNC Name

proline rich protein HaeIII subfamily 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001393989.1
p.Q47delFs
c.140delT
Surrounding Variants
1 paper
NM_001393989.1
p.Q47Q
c.141G>A
1 paper
NM_001393989.1
p.G48insFs
c.142_143ins44
1 paper
NM_001393989.1
p.G48R
c.142G>A
1 paper
NM_001393989.1
p.Q47R
c.140A>G
1 paper
NM_001393989.1
p.Q47P
c.140A>C
1 paper
NM_001393989.1
p.G48V
c.143G>T
1 paper
NM_001393989.1
p.G48E
c.143G>A
1 paper
NM_001393989.1
p.Q47*
c.139C>T
2 papers
NM_001393989.1
p.Q47K
c.139C>A
1 paper
NM_001393989.1
p.R46R
c.138T>A
3 papers
NM_001393989.1
p.R46L
c.137G>T
1 paper
NM_001393989.1
p.R46P
c.137G>C
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