Varaico: Literature-Extracted Genetic Variants

Gene:MTAP
Variant:p.G48R

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
1 paper
NM_002451.4
p.G48R
c.142G>A
Surrounding Variants
1 paper
NM_002451.4
p.G48R
c.142G>C
1 paper
NM_002451.4
p.G48E
c.143G>A
1 paper
NM_002451.4
p.K49delFs
c.145delA
1 paper
NM_002451.4
p.K49fs
c.145_146fs
15 papers
NM_002451.4
p.V56I
c.166G>A
1 paper
NM_002451.4
p.K40_P41Splc
c.121-67A>G
1 paper
NM_002451.4
p.K40_P41Splc
c.121-140G>A
1 paper
NM_002451.4
p.K40_P41Splc
c.120+2T>G
1 paper
NM_002451.4
p.T36T
c.108T>C
1 paper
NM_002451.4
p.T36I
c.107C>T
1 paper
NM_002451.4
p.R29insFs
c.86_87insA
1 paper
NM_002451.4
p.R29G
c.85A>G
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