Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31C1

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
1–12 of 60 variants
3 papers
NM_001145124.1
p.Q75Fs
c.224delinsAGCFs
3 papers
NM_001145124.1
p.C76fs
c.226_227fs
3 papers
NM_001145124.1
p.I1012V
c.3034A>G
2 papers
NM_001145124.1
p.C76R
c.226T>C
2 papers
NM_001145124.1
p.C76Fs
c.226delinsTCATCTTGTCTCCCAGCFs
2 papers
NM_001145124.1
p.T78A
c.232A>G
2 papers
NM_001145124.1
p.D224_P225insGC
c.670_674ins6
2 papers
NM_001145124.1
p.S630S
c.1890T>C
2 papers
NM_001145124.1
p.M1062L
c.3184A>C
2 papers
NM_001145124.1
p.M1062L
c.3184A>T
2 papers
NM_001145124.1
p.Q1141*
c.3421C>T
1 paper
NM_001145124.1
p.R50C
c.148C>T
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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."