Varaico: Literature-Extracted Genetic Variants

Gene:UMODL1
Variant:p.S1130_V1131insFs

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.S1130_V1131insFs
c.3389_3392dup4
Surrounding Variants
1 paper
NM_001004416.3
p.Y1129insFs
c.3385_3386ins4
1 paper
NM_001004416.3
p.Q1127*
c.3379C>T
2 papers
NM_001004416.3
p.D1136N
c.3406G>A
1 paper
NM_001004416.3
p.S1123F
c.3368C>T
1 paper
NM_001004416.3
p.E1140V
c.3419A>T
1 paper
NM_001004416.3
p.P1161delFs
c.3482delC
1 paper
NM_001004416.3
p.P1161fs
c.3481_3482fs
1 paper
NM_001004416.3
p.S1172C
c.3514A>T
1 paper
NM_001004416.3
p.P1179L
c.3536C>T
1 paper
NM_001004416.3
p.G1191S
c.3571G>A
1 paper
NM_001004416.3
p.D1208N
c.3622G>A
1 paper
NM_001004416.3
p.Y1212F
c.3635A>T
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