Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31A6
Variant:p.H1223R

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
2 papers
NM_001145196.1
p.H1223R
c.3668A>G
Surrounding Variants
1 paper
NM_001145196.1
p.T1207T
c.3621G>A
1 paper
NM_001145196.1
p.Q1203*
c.3607C>T
1 paper
NM_001145196.1
p.E1201K
c.3601G>A
1 paper
NM_001145196.1
p.Y1260*
c.3780T>A
1 paper
NM_001145196.1
p.Y1260*
c.3780T>G
2 papers
NM_001145196.1
p.Q1266K
c.3796C>A
1 paper
NM_001145196.1
p.G1273S
c.3817G>A
2 papers
NM_001145196.1
p.R1279R
c.3837G>A
1 paper
NM_001145196.1
p.F1167insFs
c.3501dupT
1 paper
NM_001145196.1
p.R1133W
c.3397A>T
2 papers
NM_001145196.1
p.P1316H
c.3947C>A
1 paper
NM_001145196.1
p.H1329Q
c.3987C>A
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