Varaico: Literature-Extracted Genetic Variants

Gene:MCTP1
Variant:p.E10D

MCTP1

51 papers

Pfam Domains

C2aa 261–362UCSCC2 domain
C2aa 470–571UCSCC2 domain
C2aa 626–725UCSCC2 domain
PRT_Caa 827–977UCSCPlant phosphoribosyltransferase C-terminal

Gene Aliases

HGNC Name

multiple C2 and transmembrane domain containing 1

HGNC Alias Symbol

FLJ22344

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024717.7
p.E10D
c.30G>C
Surrounding Variants
1 paper
NM_024717.7
p.E10D
c.30G>T
1 paper
NM_024717.7
p.A51T
c.151G>A
2 papers
NM_024717.7
p.S72G
c.214A>G
1 paper
NM_024717.7
p.G73S
c.217G>A
1 paper
NM_024717.7
p.R114K
c.341G>A
1 paper
NM_024717.7
p.E116*
c.346G>T
1 paper
NM_024717.7
p.R126S
c.376C>A
1 paper
NM_024717.7
p.P148R
c.443C>G
1 paper
NM_024717.7
p.L193S
c.578T>C
1 paper
NM_024717.7
p.A225S
c.673G>T
1 paper
NM_024717.7
p.T232M
c.695C>T
1 paper
NM_024717.7
p.E234G
c.701A>G
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