Varaico: Literature-Extracted Genetic Variants

Gene:PGRMC1
Variant:p.C129Y

PGRMC1

63 papers

RefSeq Summary

This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010].

Pfam Domains

Cyt-b5aa 74–171UCSCCytochrome b5-like Heme/Steroid binding domain

Gene Aliases

HGNC Name

progesterone receptor membrane component 1

HGNC Alias Symbol

HPR6.6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006667.5
p.C129Y
c.386G>A
Surrounding Variants
1 paper
NM_006667.5
p.A126V
c.377C>T
1 paper
NM_006667.5
p.A134T
c.400G>A
3 papers
NM_006667.5
p.D120G
c.359A>G
1 paper
NM_006667.5
p.D120N
c.358G>A
2 papers
NM_006667.5
p.D140H
c.418G>C
1 paper
NM_006667.5
p.D140E
c.420T>A
1 paper
NM_006667.5
p.D140E
c.420T>G
1 paper
NM_006667.5
p.D141E
c.423C>A
1 paper
NM_006667.5
p.D141E
c.423C>G
1 paper
NM_006667.5
p.L142F
c.424C>T
1 paper
NM_006667.5
p.Y113F
c.338A>T
1 paper
NM_006667.5
p.G111R
c.331G>A
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