Varaico: Literature-Extracted Genetic Variants

Gene:MCTP2
Variant:p.S231T

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.S231T
c.692G>C
Surrounding Variants
1 paper
NM_001385001.1
p.K232delFs
c.694_695delAA
1 paper
NM_001385001.1
p.K232fs
c.694_695fs
5 papers
NM_001385001.1
p.Y235C
c.704A>G
1 paper
NM_001385001.1
p.L238V
c.712T>G
1 paper
NM_001385001.1
p.L238S
c.713T>C
1 paper
NM_001385001.1
p.L238F
c.714G>C
1 paper
NM_001385001.1
p.L238F
c.714G>T
1 paper
NM_001385001.1
p.K220delFs
c.658delA
1 paper
NM_001385001.1
p.V246fs
c.736_737fs
1 paper
NM_001385001.1
p.V246delFs
c.737delT
2 papers
NM_001385001.1
p.R258C
c.772C>T
1 paper
NM_001385001.1
p.D265insFs
c.794dupA
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