Varaico: Literature-Extracted Genetic Variants

Gene:MATCAP1
Variant:p.Q215fs

MATCAP1

19 papers

Pfam Domains

MATCAPaa 215–460UCSCMicrotubule-associated tyrosine carboxypeptidase

Gene Aliases

HGNC Name

microtubule associated tyrosine carboxypeptidase 1

HGNC Previous Symbol

KIAA0895L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040715.2
p.Q215fs
c.643_644fs
Surrounding Variants
1 paper
NM_001040715.2
p.G214insFs
c.642dupG
1 paper
NM_001040715.2
p.R227C
c.679C>T
2 papers
NM_001040715.2
p.T174M
c.521C>T
1 paper
NM_001040715.2
p.A133V
c.398C>T
1 paper
NM_001040715.2
p.R259W
c.775C>T
1 paper
NM_001040715.2
p.P115S
c.343C>T
1 paper
NM_001040715.2
p.E281Q
c.841G>C
1 paper
NM_001040715.2
p.E281A
c.842A>C
1 paper
NM_001040715.2
p.R79H
c.236G>A
1 paper
NM_001040715.2
p.H76R
c.227A>G
1 paper
NM_001040715.2
p.G283Splc
c.847+70G>C
1 paper
NM_001040715.2
p.Q43*
c.127C>T
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