Varaico: Literature-Extracted Genetic Variants

Gene:MCTP2
Variant:p.N22T

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
1 paper
NM_001385001.1
p.N22T
c.65A>C
Surrounding Variants
1 paper
NM_001385001.1
p.N22D
c.64A>G
1 paper
NM_001385001.1
p.L19*
c.56T>A
1 paper
NM_001385001.1
p.T16_P18del3
c.46_53del9
1 paper
NM_001385001.1
p.N31D
c.91A>G
1 paper
NM_001385001.1
p.P35H
c.104C>A
1 paper
NM_001385001.1
p.P6del1
c.16_18delCCA
1 paper
NM_001385001.1
p.H42delFs
c.124_125delCA
1 paper
NM_001385001.1
p.M1insFs
c.2dupT
1 paper
NM_001385001.1
p.R47H
c.140G>A
3 papers
NM_001385001.1
p.A60T
c.178G>A
1 paper
NM_001385001.1
p.A60D
c.179C>A
2 papers
NM_001385001.1
p.R66Q
c.197G>A
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