Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31E1
Variant:p.T963I

SPATA31E1

83 papers

Pfam Domains

DUF4599aa 110–197UCSCDomain of unknown function (DUF4599)
FAM75aa 420–789UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily E member 1

HGNC Previous Symbols

C9orf79; FAM75E1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178828.5
p.T963I
c.2888C>T
Surrounding Variants
1 paper
NM_178828.5
p.T963A
c.2887A>G
1 paper
NM_178828.5
p.R956S
c.2868G>C
1 paper
NM_178828.5
p.R956S
c.2868G>T
1 paper
NM_178828.5
p.G955_R956insFs
c.2865_2868dup4
1 paper
NM_178828.5
p.P950L
c.2849C>T
1 paper
NM_178828.5
p.P933R
c.2798C>G
1 paper
NM_178828.5
p.A995D
c.2984C>A
1 paper
NM_178828.5
p.E998K
c.2992G>A
1 paper
NM_178828.5
p.G918D
c.2753G>A
1 paper
NM_178828.5
p.S912*
c.2735C>A
1 paper
NM_178828.5
p.S912*
c.2735C>G
1 paper
NM_178828.5
p.S912delFs
c.2735delC
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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."