Varaico: Literature-Extracted Genetic Variants

Gene:INTU
Variant:p.D497Y

INTU

92 papers

Pfam Domains

Intu_longin_1aa 305–416UCSCFirst Longin domain of INTU, CCZ1 and HPS4
Intu_longin_2aa 514–633UCSCIntu longin-like domain 2
Intu_longin_3aa 796–936UCSCIntu longin-like domain 3

Gene Aliases

HGNC Name

inturned planar cell polarity protein

HGNC Previous Symbols

PDZK6; PDZD6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015693.4
p.D497Y
c.1489G>T
Surrounding Variants
1 paper
NM_015693.4
p.A495insFs
c.1484_1485insCA
3 papers
NM_015693.4
p.E500A
c.1499A>C
1 paper
NM_015693.4
p.T513_I514del2
c.1537_1541del6
1 paper
NM_015693.4
p.I514V
c.1540A>G
1 paper
NM_015693.4
p.S518F
c.1553C>T
2 papers
NM_015693.4
p.G523S
c.1567G>A
1 paper
NM_015693.4
p.C527_S528insFs
c.1581_1582insCA
1 paper
NM_015693.4
p.Y541insFs
c.1621_1622insCA
2 papers
NM_015693.4
p.R543C
c.1627C>T
1 paper
NM_015693.4
p.R543H
c.1628G>A
2 papers
NM_015693.4
p.R572*
c.1714C>T
1 paper
NM_015693.4
p.A575V
c.1724C>T
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