Varaico: Literature-Extracted Genetic Variants

Gene:CRELD2
Variant:p.P238L

CRELD2

38 papers

Pfam Domains

EGF_CAaa 230–288UCSCCalcium-binding EGF domain
EGF_CAaa 230–288UCSCCalcium-binding EGF domain
EGF_CAaa 290–330UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

CRELD disulfide isomerase 2

HGNC Alias Symbol

MGC11256

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024324.5
p.P238L
c.713C>T
Surrounding Variants
1 paper
NM_024324.5
p.E237K
c.709G>A
1 paper
NM_024324.5
p.A243T
c.727G>A
1 paper
NM_024324.5
p.A250T
c.748G>A
1 paper
NM_024324.5
p.G215C
c.643G>T
1 paper
NM_024324.5
p.T205R
c.614C>G
1 paper
NM_024324.5
p.D200D
c.600C>T
2 papers
NM_024324.5
p.A198_S207delFs
c.593_621del29
1 paper
NM_024324.5
p.V264fs
c.790_791fs
1 paper
NM_024324.5
p.E191K
c.571G>A
1 paper
NM_024324.5
p.D182E
c.546C>A
1 paper
NM_024324.5
p.D182E
c.546C>G
1 paper
NM_024324.5
p.D182N
c.544G>A
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