Varaico: Literature-Extracted Genetic Variants

Gene:EVA1C
Variant:p.K251E

EVA1C

204 papers

Pfam Domains

SUEL_Lectinaa 75–158UCSCD-galactoside/L-rhamnose binding SUEL lectin domain
SUEL_Lectinaa 176–259UCSCD-galactoside/L-rhamnose binding SUEL lectin domain
FAM176aa 301–441UCSCFAM176 family

Gene Aliases

HGNC Name

eva-1 homolog C

HGNC Previous Symbols

C21orf64; C21orf63; FAM176C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_058187.5
p.K251E
c.751A>G
Surrounding Variants
1 paper
NM_058187.5
p.Y252F
c.755A>T
2 papers
NM_058187.5
p.G248D
c.743G>A
1 paper
NM_058187.5
p.N237_N238insFs
c.711_712insGG
1 paper
NM_058187.5
p.L219delFs
c.657delG
1 paper
NM_058187.5
p.A218G
c.653C>G
1 paper
NM_058187.5
p.L214_L219delFs
c.640_656del17
1 paper
NM_058187.5
p.I264_L265insG
c.790_794ins3
1 paper
NM_058187.5
p.L265delFs
c.795delC
1 paper
NM_058187.5
p.A271T
c.811G>A
1 paper
NM_058187.5
p.E285K
c.853G>A
1 paper
NM_058187.5
p.G287S
c.859G>A
1 paper
NM_058187.5
p.G287R
c.859G>C
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