Varaico: Literature-Extracted Genetic Variants

Gene:INTU
Variant:p.Y107fs

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.Y107fs
c.319_320fs
Surrounding Variants
1 paper
NM_015693.4
p.R104insFs
c.311_312insA
1 paper
NM_015693.4
p.R104fs
c.310_311fs
1 paper
NM_015693.4
p.E103Q
c.307G>C
1 paper
NM_015693.4
p.R127C
c.379C>T
1 paper
NM_015693.4
p.N129fs
c.385_386fs
1 paper
NM_015693.4
p.K130insFs
c.388_389insA
4 papers
NM_015693.4
p.N132fs
c.394_395fs
4 papers
NM_015693.4
p.N132delFs
c.396delT
1 paper
NM_015693.4
p.P80S
c.238C>T
1 paper
NM_015693.4
p.N147S
c.440A>G
1 paper
NM_015693.4
p.K149M
c.446A>T
1 paper
NM_015693.4
p.K61R
c.182A>G
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