Varaico: Literature-Extracted Genetic Variants

Gene:CARF
Variant:p.G246R

CARF

59 papers

Pfam Domains

ALS2CR8aa 251–483UCSCAmyotrophic lateral sclerosis 2 chromosomal region candidate gene 8

Gene Aliases

HGNC Name

calcium responsive transcription factor

HGNC Previous Symbol

ALS2CR8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024744.17
p.G246R
c.736G>C
Surrounding Variants
1 paper
NM_024744.17
p.G246R
c.736G>A
1 paper
NM_024744.17
p.P253S
c.757C>T
1 paper
NM_024744.17
p.V233F
c.697G>T
1 paper
NM_024744.17
p.R259H
c.776G>A
1 paper
NM_024744.17
p.P268A
c.802C>G
1 paper
NM_024744.17
p.C208C
c.624C>T
1 paper
NM_024744.17
p.L297delFs
c.891delA
1 paper
NM_024744.17
p.S301R
c.901A>C
1 paper
NM_024744.17
p.S301R
c.903T>A
1 paper
NM_024744.17
p.S301R
c.903T>G
1 paper
NM_024744.17
p.Q309Q
c.927G>A
1 paper
NM_024744.17
p.Q174E
c.520C>G
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