Varaico: Literature-Extracted Genetic Variants

Gene:PIBF1
Variant:p.R299Q

PIBF1

96 papers

RefSeq Summary

This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to ...

Gene Aliases

HGNC Name

progesterone immunomodulatory binding factor 1

HGNC Previous Symbol

C13orf24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006346.4
p.R299Q
c.896G>A
Surrounding Variants
1 paper
NM_006346.4
p.R299*
c.895C>T
1 paper
NM_006346.4
p.E310E
c.930G>A
2 papers
NM_006346.4
p.K318K
c.954G>A
1 paper
NM_006346.4
p.L330P
c.989T>C
2 papers
NM_006346.4
p.K352_E356delFs
c.1056_1068del13
1 paper
NM_006346.4
p.K352E
c.1054A>G
2 papers
NM_006346.4
p.K353fs
c.1057_1058fs
1 paper
NM_006346.4
p.K353K
c.1059G>A
1 paper
NM_006346.4
p.R355K
c.1064G>A
1 paper
NM_006346.4
p.R355T
c.1064G>C
1 paper
NM_006346.4
p.E357A
c.1070A>C
1 paper
NM_006346.4
p.R230*
c.688C>T
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