Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31A1
Variant:p.L398R

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
2 papers
NM_001085452.4
p.L398R
c.1193T>G
Surrounding Variants
2 papers
NM_001085452.4
p.L398F
c.1192C>T
1 paper
NM_001085452.4
p.P401L
c.1202C>T
2 papers
NM_001085452.4
p.W404L
c.1211G>T
1 paper
NM_001085452.4
p.T355S
c.1063A>T
1 paper
NM_001085452.4
p.R353*
c.1057C>T
1 paper
NM_001085452.4
p.A336A
c.1008C>A
1 paper
NM_001085452.4
p.P526A
c.1576C>G
1 paper
NM_001085452.4
p.A262T
c.784G>A
1 paper
NM_001085452.4
p.E194G
c.581A>G
1 paper
NM_001085452.4
p.P171S
c.511C>T
1 paper
NM_001085452.4
p.G650D
c.1949G>A
1 paper
NM_001085452.4
p.E143K
c.427G>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."