Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31A1
Variant:p.Q1169H

SPATA31A1

25 papers

Pfam Domains

DUF4599aa 71–157UCSCDomain of unknown function (DUF4599)
FAM75aa 396–754UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily A member 1

HGNC Previous Symbols

C9orf36; FAM75A1; SPATA31A2; FAM75A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001085452.4
p.Q1169H
c.3507A>C
Surrounding Variants
1 paper
NM_001085452.4
p.Q1169H
c.3507A>T
1 paper
NM_001085452.4
p.M1216I
c.3648G>A
1 paper
NM_001085452.4
p.M1216I
c.3648G>C
1 paper
NM_001085452.4
p.M1216I
c.3648G>T
1 paper
NM_001085452.4
p.K1231N
c.3693G>T
1 paper
NM_001085452.4
p.P1106L
c.3317C>T
1 paper
NM_001085452.4
p.H1235R
c.3704A>G
1 paper
NM_001085452.4
p.N1099S
c.3296A>G
1 paper
NM_001085452.4
p.N1090K
c.3270C>A
1 paper
NM_001085452.4
p.N1090K
c.3270C>G
1 paper
NM_001085452.4
p.E1087G
c.3260A>G
2 papers
NM_001085452.4
p.A1077T
c.3229G>A
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