Varaico: Literature-Extracted Genetic Variants

Gene:C2orf49
Variant:p.P191L

C2orf49

41 papers

Pfam Domains

Ashwinaa 13–138UCSCDevelopmental protein
Ashwinaa 130–190UCSCDevelopmental protein

Gene Aliases

HGNC Name

chromosome 2 open reading frame 49

HGNC Alias Symbols

MGC5509; asw

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024093.3
p.P191L
c.572C>T
Surrounding Variants
5 papers
NM_024093.3
p.G185D
c.554G>A
1 paper
NM_024093.3
p.S182R
c.546T>A
1 paper
NM_024093.3
p.S182R
c.546T>G
1 paper
NM_024093.3
p.S182R
c.544A>C
1 paper
NM_024093.3
p.T178M
c.533C>T
2 papers
NM_024093.3
p.T164M
c.491C>T
1 paper
NM_024093.3
p.K163N
c.489A>C
1 paper
NM_024093.3
p.K163N
c.489A>T
1 paper
NM_024093.3
p.S148R
c.444T>A
1 paper
NM_024093.3
p.S148R
c.444T>G
1 paper
NM_024093.3
p.S148R
c.442A>C
1 paper
NM_024093.3
p.S147W
c.440C>G
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