Varaico: Literature-Extracted Genetic Variants

Gene:MCTP2

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
1–12 of 119 variants
5 papers
NM_001385001.1
p.S80delFs
c.239delG
5 papers
NM_001385001.1
p.Y235C
c.704A>G
4 papers
NM_001385001.1
p.S80fs
c.238_239fs
3 papers
NM_001385001.1
p.A60T
c.178G>A
3 papers
NM_001385001.1
p.G203D
c.608G>A
2 papers
NM_001385001.1
p.R66Q
c.197G>A
2 papers
NM_001385001.1
p.S80fs
c.238_239fs
2 papers
NM_001385001.1
p.S231T
c.692G>C
2 papers
NM_001385001.1
p.R258C
c.772C>T
2 papers
NM_001385001.1
p.E488K
c.1462G>A
2 papers
NM_001385001.1
p.D531G
c.1592A>G
2 papers
NM_001385001.1
p.T545M
c.1634C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."