Varaico: Literature-Extracted Genetic Variants

Gene:PGR
Variant:p.R319H

PGR

1,057 papers

RefSeq Summary

This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated wit...

Pfam Domains

Prog_receptoraa 1–564UCSCProgesterone receptor
Prog_receptoraa 1–564UCSCProgesterone receptor
zf-C4aa 565–634UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 565–634UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 565–634UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 704–891UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

progesterone receptor

HGNC Alias Symbols

PR; NR3C3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000926.4
p.R319H
c.956G>A
Surrounding Variants
1 paper
NM_000926.4
p.A318delFs
c.953delG
1 paper
NM_000926.4
p.A317_A318delFs
c.950_953del4
1 paper
NM_000926.4
p.A317_A318insFs
c.951_952insA
1 paper
NM_000926.4
p.R321W
c.961C>T
1 paper
NM_000926.4
p.A314A
c.942C>A
1 paper
NM_000926.4
p.E327K
c.979G>A
1 paper
NM_000926.4
p.L311V
c.931C>G
1 paper
NM_000926.4
p.S328I
c.983G>T
1 paper
NM_000926.4
p.L309P
c.926T>C
1 paper
NM_000926.4
p.D330N
c.988G>A
1 paper
NM_000926.4
p.D330E
c.990C>G
1 paper
NM_000926.4
p.D330E
c.990C>A
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