Varaico: Literature-Extracted Genetic Variants

Gene:ECHDC3
Variant:p.K130_V131Splc

ECHDC3

29 papers

Pfam Domains

ECH_1aa 51–301UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

enoyl-CoA hydratase domain containing 3

HGNC Alias Symbol

FLJ20909

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024693.5
p.K130_V131Splc
c.390+5209G>C
Surrounding Variants
1 paper
NM_024693.5
p.M145I
c.435G>A
1 paper
NM_024693.5
p.M145I
c.435G>C
1 paper
NM_024693.5
p.M145I
c.435G>T
2 papers
NM_024693.5
p.A151T
c.451G>A
1 paper
NM_024693.5
p.A153T
c.457G>A
1 paper
NM_024693.5
p.Q156Q
c.468A>G
1 paper
NM_024693.5
p.D162N
c.484G>A
1 paper
NM_024693.5
p.A189S
c.565G>T
1 paper
NM_024693.5
p.L190W
c.569T>G
1 paper
NM_024693.5
p.P195L
c.584C>T
2 papers
NM_024693.5
p.K197_V198Splc
c.591+1G>A
1 paper
NM_024693.5
p.K197_V198Splc
c.591+1286C>T
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