Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A544P

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.A544P
c.1630G>C
Surrounding Variants
1 paper
NM_000244.4
p.A544insFs
c.1630_1631insC
1 paper
NM_001370259.2
p.P538delFs
c.1613delG
10 papers
NM_001370259.2
p.P540S
c.1618C>T
NM_130803.3
p.P545S
c.1633C>T
1 paper
NM_001370259.2
p.P540_T541insTT
c.1618_1622ins6
1 paper
NM_001370259.2
p.P540R
c.1619C>G
1 paper
NM_001370259.2
p.T534_P540delFs
c.1602_1618del17
1 paper
NM_001370259.2
p.R527_A539del13
c.1579_1616del39
1 paper
NM_001370259.2
p.V537G
c.1610T>G
3 papers
NM_001370259.2
p.V537L
c.1609G>T
1 paper
NM_001370259.2
p.V537L
c.1609G>C
15 papers
NM_001370259.2
p.T541A
c.1621A>G
NM_130803.3
p.T546A
c.1636A>G
6 papers
NM_001370259.2
p.Q536delFs
c.1607delT
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