Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P85fs

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.P85fs
c.253_254fs
Surrounding Variants
1 paper
NM_001393989.1
p.P85T
c.253C>A
1 paper
NM_001393989.1
p.P85L
c.254C>T
2 papers
NM_001393989.1
p.P84P
c.252A>T
2 papers
NM_001393989.1
p.P84P
c.252A>G
1 paper
NM_001393989.1
p.P84R
c.251C>G
1 paper
NM_001393989.1
p.P84insFs
c.251_252insG
1 paper
NM_001393989.1
p.P84insFs
c.251_252insA
1 paper
NM_001393989.1
p.P85P
c.255A>G
1 paper
NM_001393989.1
p.P85_P86insFs
c.255_256insG
1 paper
NM_001393989.1
p.P86S
c.256C>T
1 paper
NM_001393989.1
p.P84S
c.250C>T
1 paper
NM_001393989.1
p.P84insFs
c.250_251insA
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