Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31D1
Variant:p.R1188R

SPATA31D1

98 papers

Pfam Domains

DUF4599aa 66–164UCSCDomain of unknown function (DUF4599)
FAM75aa 484–854UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily D member 1

HGNC Previous Symbol

FAM75D1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001670.3
p.R1188R
c.3562A>C
Surrounding Variants
1 paper
NM_001001670.3
p.A1176S
c.3526G>T
1 paper
NM_001001670.3
p.N1159K
c.3477C>A
1 paper
NM_001001670.3
p.N1159K
c.3477C>G
1 paper
NM_001001670.3
p.R1158K
c.3473G>A
1 paper
NM_001001670.3
p.T1157I
c.3470C>T
1 paper
NM_001001670.3
p.S1132C
c.3394A>T
1 paper
NM_001001670.3
p.Q1119H
c.3357A>C
1 paper
NM_001001670.3
p.Q1119H
c.3357A>T
4 papers
NM_001001670.3
p.L1259F
c.3777G>C
4 papers
NM_001001670.3
p.L1259F
c.3777G>T
1 paper
NM_001001670.3
p.R1265C
c.3793C>T
1 paper
NM_001001670.3
p.A1267V
c.3800C>T
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