Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31C2
Variant:p.M1056L

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.M1056L
c.3166A>C
Surrounding Variants
1 paper
NM_001350978.3
p.M1056L
c.3166A>T
2 papers
NM_001350978.3
p.L1063P
c.3188T>C
1 paper
NM_001350978.3
p.A1075T
c.3223G>A
2 papers
NM_001350978.3
p.E1103D
c.3309A>T
2 papers
NM_001350978.3
p.E1103D
c.3309A>C
5 papers
NM_001350978.3
p.I1006V
c.3016A>G
1 paper
NM_001350978.3
p.A1111V
c.3332C>T
1 paper
NM_001350978.3
p.V994I
c.2980G>A
2 papers
NM_001350978.3
p.R983R
c.2949G>A
1 paper
NM_001350978.3
p.*1135Q
c.3403T>C
1 paper
NM_001350978.3
p.G910delFs
c.2729_2730delCC
1 paper
NM_001350978.3
p.G910fs
c.2728_2729fs
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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."