Varaico: Literature-Extracted Genetic Variants

Gene:LRRC7
Variant:p.Y1210*

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
2 papers
NM_001370785.2
p.Y1210*
c.3630T>G
Surrounding Variants
2 papers
NM_001370785.2
p.Y1210*
c.3630T>A
1 paper
NM_001370785.2
p.R1209M
c.3626G>T
1 paper
NM_001370785.2
p.Q1202*
c.3604C>T
1 paper
NM_001370785.2
p.E1200D
c.3600G>T
1 paper
NM_001370785.2
p.L1190L
c.3570G>A
1 paper
NM_001370785.2
p.L1232F
c.3694C>T
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.Y1248*
c.3744C>A
1 paper
NM_001370785.2
p.Y1248*
c.3744C>G
1 paper
NM_001370785.2
p.P1172P
c.3516T>G
1 paper
NM_001370785.2
p.R1259K
c.3776G>A
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