Varaico: Literature-Extracted Genetic Variants

Gene:PIBF1
Variant:p.E548K

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
1 paper
NM_006346.4
p.E548K
c.1642G>A
Surrounding Variants
1 paper
NM_006346.4
p.E548Q
c.1642G>C
3 papers
NM_006346.4
p.L557delFs
c.1669delC
4 papers
NM_006346.4
p.L557fs
c.1669_1670fs
1 paper
NM_006346.4
p.S559F
c.1676C>T
1 paper
NM_006346.4
p.Y560C
c.1679A>G
1 paper
NM_006346.4
p.N565S
c.1694A>G
1 paper
NM_006346.4
p.Q543E
c.1627C>G
1 paper
NM_006346.4
p.Y530C
c.1589A>G
2 papers
NM_006346.4
p.H523N
c.1567C>A
1 paper
NM_006346.4
p.T514I
c.1541C>T
1 paper
NM_006346.4
p.L505L
c.1515C>T
1 paper
NM_006346.4
p.Y503*
c.1509T>A
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