Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31C2
Variant:p.R263H

SPATA31C2

41 papers

Pfam Domains

DUF4599aa 77–163UCSCDomain of unknown function (DUF4599)
FAM75aa 278–600UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily C member 2

HGNC Previous Symbol

FAM75C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001350978.3
p.R263H
c.788G>A
Surrounding Variants
1 paper
NM_001350978.3
p.G272A
c.815G>C
1 paper
NM_001350978.3
p.T292T
c.876T>A
1 paper
NM_001350978.3
p.T216T
c.648T>C
1 paper
NM_001350978.3
p.R310H
c.929G>A
1 paper
NM_001350978.3
p.R215C
c.643C>T
1 paper
NM_001350978.3
p.P214_R215ins7
c.640_644ins21
1 paper
NM_001350978.3
p.E330K
c.988G>A
1 paper
NM_001350978.3
p.S196P
c.586T>C
1 paper
NM_001350978.3
p.W344R
c.1030T>C
1 paper
NM_001350978.3
p.W344R
c.1030T>A
1 paper
NM_001350978.3
p.S359S
c.1077C>T
1 paper
NM_001350978.3
p.G112E
c.335G>A
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