Varaico: Literature-Extracted Genetic Variants

Gene:POF1B
Variant:p.C239S

POF1B

83 papers

RefSeq Summary

Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called 'POF1' and 'POF2' have been identified by bre...

Pfam Domains

POF1B_HlHaa 255–335UCSCPOF1B helix-loop-helix domain

Gene Aliases

HGNC Name

POF1B actin binding protein

HGNC Alias Symbol

FLJ22792

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024921.4
p.C239S
c.715T>A
Surrounding Variants
2 papers
NM_024921.4
p.C239S
c.716G>C
1 paper
NM_024921.4
p.H232R
c.695A>G
1 paper
NM_024921.4
p.S223F
c.668C>T
1 paper
NM_024921.4
p.N220K
c.660T>G
1 paper
NM_024921.4
p.N220K
c.660T>A
1 paper
NM_024921.4
p.Q214R
c.641A>G
1 paper
NM_024921.4
p.I213F
c.637A>T
1 paper
NM_024921.4
p.Q212H
c.636A>T
1 paper
NM_024921.4
p.P207S
c.619C>T
1 paper
NM_024921.4
p.H203R
c.608A>G
1 paper
NM_024921.4
p.Q197delFs
c.589delG
1 paper
NM_024921.4
p.Q197fs
c.589_590fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."