Varaico: Literature-Extracted Genetic Variants

Gene:MCTP2
Variant:p.E488K

MCTP2

81 papers

Pfam Domains

C2aa 194–294UCSCC2 domain
C2aa 194–294UCSCC2 domain
C2aa 356–454UCSCC2 domain
C2aa 509–608UCSCC2 domain
PRT_Caa 689–857UCSCPlant phosphoribosyltransferase C-terminal

Gene Aliases

HGNC Name

multiple C2 and transmembrane domain containing 2

HGNC Alias Symbols

FLJ11175; FLJ33303

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001385001.1
p.E488K
c.1462G>A
Surrounding Variants
1 paper
NM_001385001.1
p.Y496*
c.1488T>A
1 paper
NM_001385001.1
p.Y496*
c.1488T>G
1 paper
NM_001385001.1
p.Y496_C497Splc
c.1488+1G>C
1 paper
NM_001385001.1
p.A471V
c.1412C>T
1 paper
NM_001385001.1
p.T468T
c.1404A>G
1 paper
NM_001385001.1
p.L467F
c.1399C>T
1 paper
NM_001385001.1
p.A447D
c.1340C>A
1 paper
NM_001385001.1
p.K517delFs
c.1549delA
1 paper
NM_001385001.1
p.L521L
c.1563C>T
1 paper
NM_001385001.1
p.G414D
c.1241G>A
1 paper
NM_001385001.1
p.F406S
c.1217T>C
1 paper
NM_001385001.1
p.P398L
c.1193C>T
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