Varaico: Literature-Extracted Genetic Variants

Gene:LRRC7
Variant:p.V1065fs

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.V1065fs
c.3193_3194fs
Surrounding Variants
1 paper
NM_001370785.2
p.M1040delFs
c.3118_3119delAT
1 paper
NM_001370785.2
p.R1018*
c.3052C>T
1 paper
NM_001370785.2
p.E1133*
c.3397G>T
1 paper
NM_001370785.2
p.R1153insFs
c.3458dupG
1 paper
NM_001370785.2
p.I977F
c.2929A>T
1 paper
NM_001370785.2
p.L973fs
c.2917_2918fs
1 paper
NM_001370785.2
p.P1172P
c.3516T>G
1 paper
NM_001370785.2
p.Y1181*
c.3543C>A
1 paper
NM_001370785.2
p.Y1181*
c.3543C>G
1 paper
NM_001370785.2
p.L1190L
c.3570G>A
1 paper
NM_001370785.2
p.H935insFs
c.2803dupC
1 paper
NM_001370785.2
p.E1200D
c.3600G>T
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