Varaico: Literature-Extracted Genetic Variants

Gene:PREB
Variant:p.L332F

PREB

53 papers

RefSeq Summary

This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some...

Pfam Domains

WD40aa 153–182UCSCWD domain, G-beta repeat
WD40aa 186–223UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

prolactin regulatory element binding

HGNC Alias Symbol

SEC12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013388.6
p.L332F
c.994C>T
Surrounding Variants
1 paper
NM_013388.6
p.F330L
c.990C>G
1 paper
NM_013388.6
p.F330L
c.990C>A
1 paper
NM_013388.6
p.F330L
c.988T>C
1 paper
NM_013388.6
p.T313A
c.937A>G
1 paper
NM_013388.6
p.S309Splc
c.927-2A>G
3 papers
NM_013388.6
p.R357C
c.1069C>T
2 papers
NM_013388.6
p.S288C
c.863C>G
1 paper
NM_013388.6
p.R263*
c.787C>T
1 paper
NM_013388.6
p.V404V
c.1212G>A
1 paper
NM_013388.6
p.T405I
c.1214C>T
1 paper
NM_013388.6
p.L408P
c.1223T>C
1 paper
NM_013388.6
p.R246C
c.736C>T
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