Varaico: Literature-Extracted Genetic Variants

Gene:MTAP
Variant:p.N272K

MTAP

137 papers

RefSeq Summary

This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Mu...

Pfam Domains

PNP_UDP_1aa 11–256UCSCPhosphorylase superfamily

Gene Aliases

HGNC Name

methylthioadenosine phosphorylase

HGNC Alias Symbols

MSAP; c86fus

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002451.4
p.N272K
c.816T>G
Surrounding Variants
2 papers
NM_002451.4
p.N272K
c.816T>A
1 paper
NM_002451.4
p.W263*
c.789G>A
1 paper
NM_002451.4
p.W263*
c.788G>A
1 paper
NM_002451.4
p.P256R
c.767C>G
1 paper
NM_002451.4
p.I255T
c.764T>C
1 paper
NM_002451.4
p.T254fs
c.760_761fs
1 paper
NM_002451.4
p.T253A
c.757A>G
1 paper
NM_002451.4
p.L252R
c.755T>G
1 paper
NM_002451.4
p.S249C
c.745A>T
1 paper
NM_002451.4
p.E242*
c.724G>T
1 paper
NM_002451.4
p.K241_E242del1
c.723_725delAGA
1 paper
NM_002451.4
p.R235W
c.703C>T
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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."