Varaico: Literature-Extracted Genetic Variants

Gene:MCTP2
Variant:p.G203D

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
3 papers
NM_001385001.1
p.G203D
c.608G>A
Surrounding Variants
1 paper
NM_001385001.1
p.K201R
c.602A>G
1 paper
NM_001385001.1
p.L200insFs
c.600dupG
1 paper
NM_001385001.1
p.R209Q
c.626G>A
1 paper
NM_001385001.1
p.R211C
c.631C>T
1 paper
NM_001385001.1
p.A193A
c.579G>A
1 paper
NM_001385001.1
p.L188F
c.562C>T
1 paper
NM_001385001.1
p.S160R
c.480C>A
1 paper
NM_001385001.1
p.S160R
c.480C>G
1 paper
NM_001385001.1
p.S160R
c.478A>C
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