Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31C1
Variant:p.P77delFs

SPATA31C1

47 papers

Pfam Domains

DUF4599aa 83–169UCSCDomain of unknown function (DUF4599)
FAM75aa 284–606UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily C member 1

HGNC Previous Symbol

FAM75C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145124.1
p.P77delFs
c.229delC
Surrounding Variants
1 paper
NM_001145124.1
p.P77fs
c.229_230fs
2 papers
NM_001145124.1
p.C76R
c.226T>C
2 papers
NM_001145124.1
p.C76Fs
c.226delinsTCATCTTGTCTCCCAGCFs
3 papers
NM_001145124.1
p.C76fs
c.226_227fs
1 paper
NM_001145124.1
p.C76_T78delFs
c.226_232del7
3 papers
NM_001145124.1
p.Q75Fs
c.224delinsAGCFs
2 papers
NM_001145124.1
p.T78A
c.232A>G
1 paper
NM_001145124.1
p.T78S
c.232A>T
1 paper
NM_001145124.1
p.Q75_C76ins6
c.225_226ins18
1 paper
NM_001145124.1
p.H71fs
c.211_212fs
1 paper
NM_001145124.1
p.H71_S74delFs
c.211_221del11
1 paper
NM_001145124.1
p.Q75_C76ins6
c.225_226ins18
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