Varaico: Literature-Extracted Genetic Variants

Gene:CARF
Variant:p.T514K

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.T514K
c.1541C>A
Surrounding Variants
1 paper
NM_024744.17
p.T514fs
c.1540_1541fs
1 paper
NM_024744.17
p.T514delFs
c.1540delA
1 paper
NM_024744.17
p.L509V
c.1525C>G
1 paper
NM_024744.17
p.T498_L499Splc
c.1494+1G>T
1 paper
NM_024744.17
p.S492*
c.1475C>A
1 paper
NM_024744.17
p.S492*
c.1475C>G
1 paper
NM_024744.17
p.R484K
c.1451G>A
1 paper
NM_024744.17
p.K530Q
c.1588A>C
1 paper
NM_024744.17
p.K557Q
c.1669A>C
1 paper
NM_024744.17
p.T560P
c.1678A>C
4 papers
NM_024744.17
p.Y571F
c.1712A>T
1 paper
NM_024744.17
p.S615R
c.1843A>C
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