Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31C1
Variant:p.L266M

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.L266M
c.796T>A
Surrounding Variants
1 paper
NM_001145124.1
p.S254P
c.760T>C
1 paper
NM_001145124.1
p.S244Y
c.731C>A
1 paper
NM_001145124.1
p.S295L
c.884C>T
1 paper
NM_001145124.1
p.I304V
c.910A>G
1 paper
NM_001145124.1
p.L226_A227ins16
c.676_680ins48
1 paper
NM_001145124.1
p.L226_P232del7
c.676_695del21
2 papers
NM_001145124.1
p.D224_P225insGC
c.670_674ins6
1 paper
NM_001145124.1
p.D312H
c.934G>C
1 paper
NM_001145124.1
p.T321K
c.962C>A
1 paper
NM_001145124.1
p.E211_H221del11
c.631_662del33
1 paper
NM_001145124.1
p.P208L
c.623C>T
1 paper
NM_001145124.1
p.G336E
c.1007G>A
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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."