Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R532fs

MEN1

1,357 papers

RefSeq Summary

This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic g...

Pfam Domains

Meninaa 1–146UCSCMenin
Meninaa 1–510UCSCMenin
Meninaa 364–552UCSCMenin
Meninaa 515–608UCSCMenin

Gene Aliases

HGNC Name

menin 1

HGNC Previous Name

multiple endocrine neoplasia I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000244.4
p.R532fs
c.1594_1595fs
Surrounding Variants
1 paper
NM_000244.4
p.A531_R532insFs
c.1593_1594insC
1 paper
NM_000244.4
p.R532delFs
c.1594delG
2 papers
NM_001370259.2
p.G528insFs
c.1583_1584insC
49 papers
NM_001370259.2
p.R527*
c.1579C>T
NM_000244.4
p.R532*
c.1594C>T
1 paper
NM_001370259.2
p.P518_A526delFs
c.1554_1578del25
1 paper
NM_000244.4
p.P534R
c.1601C>G
1 paper
NM_001370259.2
p.P529insFs
c.1586dupC
4 papers
NM_001370259.2
p.E530*
c.1588G>T
4 papers
NM_001370259.2
p.E530K
c.1588G>A
2 papers
NM_001370259.2
p.T525_A526insTT
c.1573_1577ins6
2 papers
NM_001370259.2
p.T521_G524delFs
c.1561_1571del11
1 paper
NM_001370259.2
p.G531fs
c.1591_1592fs
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