Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31E1
Variant:p.G1255R

SPATA31E1

83 papers

Pfam Domains

DUF4599aa 110–197UCSCDomain of unknown function (DUF4599)
FAM75aa 420–789UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily E member 1

HGNC Previous Symbols

C9orf79; FAM75E1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178828.5
p.G1255R
c.3763G>C
Surrounding Variants
1 paper
NM_178828.5
p.G1255R
c.3763G>A
1 paper
NM_178828.5
p.T1257I
c.3770C>T
1 paper
NM_178828.5
p.Y1247H
c.3739T>C
1 paper
NM_178828.5
p.G1273R
c.3817G>C
1 paper
NM_178828.5
p.T1281I
c.3842C>T
1 paper
NM_178828.5
p.A1206T
c.3616G>A
2 papers
NM_178828.5
p.D1202G
c.3605A>G
1 paper
NM_178828.5
p.G1199D
c.3596G>A
1 paper
NM_178828.5
p.A1316D
c.3947C>A
1 paper
NM_178828.5
p.V1323A
c.3968T>C
1 paper
NM_178828.5
p.P1339L
c.4016C>T
2 papers
NM_178828.5
p.R1368C
c.4102C>T
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