Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31A5
Variant:p.E92Q

SPATA31A5

13 papers

Pfam Domains

DUF4599aa 71–157UCSCDomain of unknown function (DUF4599)
FAM75aa 396–754UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily A member 5

HGNC Previous Symbol

FAM75A5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001113541.3
p.E92Q
c.274G>C
Surrounding Variants
1 paper
NM_001113541.3
p.G106E
c.317G>A
1 paper
NM_001113541.3
p.H108D
c.322C>G
1 paper
NM_001113541.3
p.P123Q
c.368C>A
1 paper
NM_001113541.3
p.V126M
c.376G>A
1 paper
NM_001113541.3
p.D144E
c.432T>A
1 paper
NM_001113541.3
p.D144E
c.432T>G
1 paper
NM_001113541.3
p.R230W
c.688C>T
2 papers
NM_001113541.3
p.E313Q
c.937G>C
1 paper
NM_001113541.3
p.G418V
c.1253G>T
1 paper
NM_001113541.3
p.P420L
c.1259C>T
1 paper
NM_001113541.3
p.Q504P
c.1511A>C
1 paper
NM_001113541.3
p.R550K
c.1649G>A
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