Varaico: Literature-Extracted Genetic Variants

Gene:PREB
Variant:p.H98L

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.H98L
c.293A>T
Surrounding Variants
1 paper
NM_013388.6
p.E106*
c.316G>T
1 paper
NM_013388.6
p.G120E
c.359G>A
1 paper
NM_013388.6
p.S152T
c.455G>C
1 paper
NM_013388.6
p.F162V
c.484T>G
1 paper
NM_013388.6
p.K182N
c.546G>T
1 paper
NM_013388.6
p.K182N
c.546G>C
1 paper
NM_013388.6
p.E187V
c.560A>T
1 paper
NM_013388.6
p.E196K
c.586G>A
2 papers
NM_013388.6
p.A30P
c.88G>C
1 paper
NM_013388.6
p.V21fs
c.61_62fs
1 paper
NM_013388.6
p.Q20insFs
c.59dupA
1 paper
NM_013388.6
p.P13P
c.39G>C
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