Varaico: Literature-Extracted Genetic Variants

Gene:UMODL1
Variant:p.V41L

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
1 paper
NM_001004416.3
p.V41L
c.121G>C
Surrounding Variants
1 paper
NM_001004416.3
p.V41L
c.121G>T
1 paper
NM_001004416.3
p.S60C
c.179C>G
1 paper
NM_001004416.3
p.W67R
c.199T>A
1 paper
NM_001004416.3
p.W67R
c.199T>C
1 paper
NM_001004416.3
p.W67*
c.200G>A
1 paper
NM_001004416.3
p.W67*
c.201G>A
1 paper
NM_001004416.3
p.C70*
c.210C>A
1 paper
NM_001004416.3
p.M73L
c.217A>T
1 paper
NM_001004416.3
p.Y79C
c.236A>G
1 paper
NM_001004416.3
p.G101S
c.301G>A
1 paper
NM_001004416.3
p.E26Splc
c.76+1G>C
1 paper
NM_001004416.3
p.G23D
c.68G>A
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