Varaico: Literature-Extracted Genetic Variants

Gene:MTAP
Variant:p.C163Y

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.C163Y
c.488G>A
Surrounding Variants
1 paper
NM_002451.4
p.S165L
c.494C>T
1 paper
NM_002451.4
p.L152P
c.455T>C
1 paper
NM_002451.4
p.P175L
c.524C>T
1 paper
NM_002451.4
p.E150_V151Splc
c.451-1G>C
2 papers
NM_002451.4
p.R180W
c.538C>T
1 paper
NM_002451.4
p.R180Q
c.539G>A
1 paper
NM_002451.4
p.R187R
c.561C>T
1 paper
NM_002451.4
p.A191fs
c.571_572fs
1 paper
NM_002451.4
p.D192_V193insCA
c.574_578ins6
1 paper
NM_002451.4
p.I194V
c.580A>G
2 papers
NM_002451.4
p.P200A
c.598C>G
1 paper
NM_002451.4
p.E201Q
c.601G>C
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."