Varaico: Literature-Extracted Genetic Variants

Gene:DNER
Variant:p.Q193*

DNER

86 papers

Pfam Domains

EGFaa 98–131UCSCEGF-like domain
EGFaa 353–388UCSCEGF-like domain
EGFaa 396–426UCSCEGF-like domain
EGFaa 434–464UCSCEGF-like domain
EGFaa 472–501UCSCEGF-like domain
EGFaa 509–539UCSCEGF-like domain

Gene Aliases

HGNC Name

delta/notch like EGF repeat containing

HGNC Alias Symbol

UNQ26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139072.4
p.Q193*
c.577C>T
Surrounding Variants
1 paper
NM_139072.4
p.V194M
c.580G>A
1 paper
NM_139072.4
p.M189I
c.567G>T
1 paper
NM_139072.4
p.M189I
c.567G>C
1 paper
NM_139072.4
p.M189I
c.567G>A
1 paper
NM_139072.4
p.P180P
c.540G>A
1 paper
NM_139072.4
p.V173G
c.518T>G
1 paper
NM_139072.4
p.L153R
c.458T>G
1 paper
NM_139072.4
p.R151Q
c.452G>A
2 papers
NM_139072.4
p.R151*
c.451C>T
2 papers
NM_139072.4
p.E146K
c.436G>A
1 paper
NM_139072.4
p.G129V
c.386G>T
1 paper
NM_139072.4
p.C123*
c.369C>A
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