Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31A6
Variant:p.R917K

SPATA31A6

51 papers

Pfam Domains

DUF4599aa 71–157UCSCDomain of unknown function (DUF4599)
FAM75aa 396–750UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily A member 6

HGNC Previous Symbol

FAM75A6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145196.1
p.R917K
c.2750G>A
Surrounding Variants
1 paper
NM_001145196.1
p.S900C
c.2699C>G
1 paper
NM_001145196.1
p.E946D
c.2838G>C
1 paper
NM_001145196.1
p.E946D
c.2838G>T
1 paper
NM_001145196.1
p.P878L
c.2633C>T
1 paper
NM_001145196.1
p.L966F
c.2896C>T
1 paper
NM_001145196.1
p.T833T
c.2499G>A
6 papers
NM_001145196.1
p.P1102L
c.3305C>T
1 paper
NM_001145196.1
p.R1133W
c.3397A>T
1 paper
NM_001145196.1
p.F1167insFs
c.3501dupT
1 paper
NM_001145196.1
p.R661M
c.1982G>T
1 paper
NM_001145196.1
p.T643M
c.1928C>T
1 paper
NM_001145196.1
p.E1201K
c.3601G>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."