Varaico: Literature-Extracted Genetic Variants

Gene:ISLR2
Variant:p.W554fs

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
4 papers
NM_020851.3
p.W554fs
c.1660_1661fs
Surrounding Variants
1 paper
NM_020851.3
p.Y553Y
c.1659C>T
4 papers
NM_020851.3
p.W554delFs
c.1660delT
1 paper
NM_020851.3
p.V546I
c.1636G>A
1 paper
NM_020851.3
p.R545H
c.1634G>A
1 paper
NM_020851.3
p.A539V
c.1616C>T
1 paper
NM_020851.3
p.A535V
c.1604C>T
1 paper
NM_020851.3
p.L532M
c.1594C>A
1 paper
NM_020851.3
p.G515R
c.1543G>A
1 paper
NM_020851.3
p.G515R
c.1543G>C
1 paper
NM_020851.3
p.L609fs
c.1825_1826fs
1 paper
NM_020851.3
p.L609delFs
c.1827delG
1 paper
NM_020851.3
p.F484_E485delFs
c.1452_1453delCG
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