Varaico: Literature-Extracted Genetic Variants

Gene:ENKD1
Variant:p.R258G

ENKD1

34 papers

Pfam Domains

Enkurinaa 243–339UCSCCalmodulin-binding

Gene Aliases

HGNC Name

enkurin domain containing 1

HGNC Previous Symbol

C16orf48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032140.3
p.R258G
c.772C>G
Surrounding Variants
1 paper
NM_032140.3
p.R263C
c.787C>T
1 paper
NM_032140.3
p.Q267*
c.799C>T
1 paper
NM_032140.3
p.P268L
c.803C>T
1 paper
NM_032140.3
p.R284Q
c.851G>A
2 papers
NM_032140.3
p.Y248Splc
c.743+1G>A
1 paper
NM_032140.3
p.K242R
c.725A>G
1 paper
NM_032140.3
p.Q234*
c.700C>T
1 paper
NM_032140.3
p.R300C
c.898C>T
1 paper
NM_032140.3
p.R215G
c.643A>G
1 paper
NM_032140.3
p.R214fs
c.640_641fs
1 paper
NM_032140.3
p.R214delFs
c.640delG
1 paper
NM_032140.3
p.R214G
c.640C>G
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