Varaico: Literature-Extracted Genetic Variants

Gene:MCTP2
Variant:p.R66Q

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.R66Q
c.197G>A
Surrounding Variants
1 paper
NM_001385001.1
p.G70R
c.208G>A
1 paper
NM_001385001.1
p.G70R
c.208G>C
1 paper
NM_001385001.1
p.P71S
c.211C>T
1 paper
NM_001385001.1
p.Q72R
c.215A>G
1 paper
NM_001385001.1
p.A60D
c.179C>A
3 papers
NM_001385001.1
p.A60T
c.178G>A
1 paper
NM_001385001.1
p.S77W
c.230C>G
4 papers
NM_001385001.1
p.S80fs
c.238_239fs
5 papers
NM_001385001.1
p.S80delFs
c.239delG
2 papers
NM_001385001.1
p.S80fs
c.238_239fs
1 paper
NM_001385001.1
p.R47H
c.140G>A
1 paper
NM_001385001.1
p.K90M
c.269A>T
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