Varaico: Literature-Extracted Genetic Variants

Gene:LRRC7
Variant:p.L759delFs

LRRC7

82 papers

Pfam Domains

LRR_8aa 84–142UCSCLeucine rich repeat
LRR_14aa 159–242UCSCLeucine-rich repeat region
LRR_14aa 229–336UCSCLeucine-rich repeat region
LRR_8aa 350–407UCSCLeucine rich repeat
PDZaa 1406–1490UCSCPDZ domain

Gene Aliases

HGNC Name

leucine rich repeat containing 7

HGNC Alias Symbols

KIAA1365; densin-180

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370785.2
p.L759delFs
c.2275delT
Surrounding Variants
1 paper
NM_001370785.2
p.R763Splc
c.2288+2T>C
1 paper
NM_001370785.2
p.Q748*
c.2242C>T
1 paper
NM_001370785.2
p.Q732R
c.2195A>G
1 paper
NM_001370785.2
p.E703Splc
c.2108-2A>G
1 paper
NM_001370785.2
p.E703Splc
c.2107+2T>C
1 paper
NM_001370785.2
p.G698V
c.2093G>T
1 paper
NM_001370785.2
p.S779N
c.2336G>A
1 paper
NM_001370785.2
p.E782A
c.2345A>C
1 paper
NM_001370785.2
p.N788D
c.2362A>G
1 paper
NM_001370785.2
p.N788S
c.2363A>G
1 paper
NM_001370785.2
p.R792delFs
c.2374delC
1 paper
NM_001370785.2
p.R792fs
c.2374_2375fs
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