Varaico: Literature-Extracted Genetic Variants

Gene:LRRC7
Variant:p.E454G

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.E454G
c.1361A>G
Surrounding Variants
1 paper
NM_001370785.2
p.R458_T461del4
c.1372_1382del12
1 paper
NM_001370785.2
p.T426A
c.1276A>G
1 paper
NM_001370785.2
p.W487*
c.1460G>A
1 paper
NM_001370785.2
p.E502K
c.1504G>A
1 paper
NM_001370785.2
p.E575K
c.1723G>A
1 paper
NM_001370785.2
p.D415G
c.1244A>G
1 paper
NM_001370785.2
p.Q406*
c.1216C>T
1 paper
NM_001370785.2
p.I379V
c.1135A>G
1 paper
NM_001370785.2
p.L375insFs
c.1125dupA
2 papers
NM_001370785.2
p.E374D
c.1122A>T
1 paper
NM_001370785.2
p.E374Q
c.1120G>C
1 paper
NM_001370785.2
p.E341_C344del4
c.1021_1031del12
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."