Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31D1
Variant:p.P196T

SPATA31D1

98 papers

Pfam Domains

DUF4599aa 66–164UCSCDomain of unknown function (DUF4599)
FAM75aa 484–854UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily D member 1

HGNC Previous Symbol

FAM75D1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001670.3
p.P196T
c.586C>A
Surrounding Variants
1 paper
NM_001001670.3
p.A192P
c.574G>C
1 paper
NM_001001670.3
p.P180T
c.538C>A
1 paper
NM_001001670.3
p.P176fs
c.526_527fs
1 paper
NM_001001670.3
p.P216Q
c.647C>A
1 paper
NM_001001670.3
p.A173T
c.517G>A
1 paper
NM_001001670.3
p.T171I
c.512C>T
1 paper
NM_001001670.3
p.A163P
c.487G>C
1 paper
NM_001001670.3
p.D139fs
c.415_416fs
1 paper
NM_001001670.3
p.R135_Q141delFs
c.405_421del17
1 paper
NM_001001670.3
p.E257Q
c.769G>C
1 paper
NM_001001670.3
p.R131Q
c.392G>A
1 paper
NM_001001670.3
p.E263E
c.789A>G
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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."