Varaico: Literature-Extracted Genetic Variants

Gene:UMODL1
Variant:p.E271K

UMODL1

83 papers

Pfam Domains

WAPaa 117–157UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'
WAPaa 117–157UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'
EGF_CAaa 264–301UCSCCalcium-binding EGF domain
EGF_CAaa 264–301UCSCCalcium-binding EGF domain
SEAaa 398–479UCSCSEA domain
SEAaa 398–479UCSCSEA domain

Gene Aliases

HGNC Name

uromodulin like 1

HGNC Alias Name

olfactorin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001004416.3
p.E271K
c.811G>A
Surrounding Variants
1 paper
NM_001004416.3
p.T300T
c.900G>A
1 paper
NM_001004416.3
p.L305P
c.914T>C
1 paper
NM_001004416.3
p.Q261*
c.781C>T
2 papers
NM_001004416.3
p.R253C
c.757C>T
1 paper
NM_001004416.3
p.A251T
c.751G>A
1 paper
NM_001004416.3
p.D249N
c.745G>A
1 paper
NM_001004416.3
p.L246L
c.738G>A
1 paper
NM_001004416.3
p.V227M
c.679G>A
1 paper
NM_001004416.3
p.G221R
c.661G>A
1 paper
NM_001004416.3
p.V173I
c.517G>A
1 paper
NM_001004416.3
p.A158T
c.472G>A
1 paper
NM_001004416.3
p.G151R
c.451G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."