Varaico: Literature-Extracted Genetic Variants

Gene:ISLR2
Variant:p.L609delFs

ISLR2

46 papers

Pfam Domains

LRR_8aa 51–111UCSCLeucine rich repeat
LRR_8aa 123–183UCSCLeucine rich repeat

Gene Aliases

HGNC Name

immunoglobulin superfamily containing leucine rich repeat 2

HGNC Alias Symbol

KIAA1465

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020851.3
p.L609delFs
c.1827delG
Surrounding Variants
1 paper
NM_020851.3
p.L609fs
c.1825_1826fs
1 paper
NM_020851.3
p.R626H
c.1877G>A
1 paper
NM_020851.3
p.M637I
c.1911G>A
1 paper
NM_020851.3
p.M637I
c.1911G>C
1 paper
NM_020851.3
p.M637I
c.1911G>T
1 paper
NM_020851.3
p.E638K
c.1912G>A
1 paper
NM_020851.3
p.R640C
c.1918C>T
1 paper
NM_020851.3
p.A642S
c.1924G>T
1 paper
NM_020851.3
p.S654Y
c.1961C>A
4 papers
NM_020851.3
p.W554fs
c.1660_1661fs
1 paper
NM_020851.3
p.Y553Y
c.1659C>T
4 papers
NM_020851.3
p.W554delFs
c.1660delT
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