Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31C2
Variant:p.A72fs

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.A72fs
c.214_215fs
Surrounding Variants
1 paper
NM_001350978.3
p.A72insFs
c.214_215ins7
1 paper
NM_001350978.3
p.P71fs
c.211_212fs
1 paper
NM_001350978.3
p.P71delins
c.212delinsATCTTGTCTCCCAGCGTCATCTTGTCTCCCAGCGTCC
3 papers
NM_001350978.3
p.P71ins12
c.211_212ins36
1 paper
NM_001350978.3
p.P71insFs
c.211_212ins29
1 paper
NM_001350978.3
p.P71fs
c.211_212fs
1 paper
NM_001350978.3
p.R91K
c.272G>A
1 paper
NM_001350978.3
p.G112E
c.335G>A
1 paper
NM_001350978.3
p.K63_R64Splc
c.190-1109A>G
1 paper
NM_001350978.3
p.S196P
c.586T>C
1 paper
NM_001350978.3
p.P214_R215ins7
c.640_644ins21
1 paper
NM_001350978.3
p.R215C
c.643C>T
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