Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31D1
Variant:p.E840K

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.E840K
c.2518G>A
Surrounding Variants
1 paper
NM_001001670.3
p.Q823R
c.2468A>G
1 paper
NM_001001670.3
p.K858R
c.2573A>G
1 paper
NM_001001670.3
p.K866I
c.2597A>T
1 paper
NM_001001670.3
p.L876M
c.2626C>A
1 paper
NM_001001670.3
p.S801F
c.2402C>T
1 paper
NM_001001670.3
p.V880L
c.2638G>C
1 paper
NM_001001670.3
p.V880L
c.2638G>T
1 paper
NM_001001670.3
p.D883N
c.2647G>A
1 paper
NM_001001670.3
p.S793*
c.2378C>A
1 paper
NM_001001670.3
p.S793*
c.2378C>G
1 paper
NM_001001670.3
p.T791T
c.2373T>A
1 paper
NM_001001670.3
p.E891D
c.2673A>C
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