Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L175R

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
2 papers
NM_000244.4
p.L175R
c.524T>G
NM_001370259.2
p.L170R
c.509T>G
Surrounding Variants
5 papers
NM_130803.3
p.L175P
c.524T>C
NM_001370259.2
p.L170P
c.509T>C
1 paper
NM_001370259.2
p.G169_L170del1
c.506_508delGAC
1 paper
NM_001370259.2
p.L170L
c.510C>T
1 paper
NM_001370259.2
p.L170F
c.508C>T
1 paper
NM_001370259.2
p.L170L
c.510C>G
1 paper
NM_001370259.2
p.L170V
c.508C>G
1 paper
NM_001370259.2
p.G169insFs
c.506_507dupGT
1 paper
NM_001370259.2
p.L170L
c.510C>A
3 papers
NM_001370259.2
p.G169delFs
c.505delC
9 papers
NM_001370259.2
p.R171W
c.511C>T
1 paper
NM_001370259.2
p.R171G
c.511C>G
1 paper
NM_001370259.2
p.R171R
c.511C>A
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