Varaico: Literature-Extracted Genetic Variants

Gene:INTU
Variant:p.G200R

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
3 papers
NM_015693.4
p.G200R
c.598G>A
Surrounding Variants
2 papers
NM_015693.4
p.G200R
c.598G>C
1 paper
NM_015693.4
p.W194*
c.581G>A
1 paper
NM_015693.4
p.G217G
c.651A>T
1 paper
NM_015693.4
p.K221N
c.663G>T
1 paper
NM_015693.4
p.V172fs
c.514_515fs
1 paper
NM_015693.4
p.T171_V172delFs
c.513_514delTG
1 paper
NM_015693.4
p.R157L
c.470G>T
1 paper
NM_015693.4
p.Q156*
c.466C>T
1 paper
NM_015693.4
p.K149M
c.446A>T
1 paper
NM_015693.4
p.N147S
c.440A>G
4 papers
NM_015693.4
p.N132delFs
c.396delT
4 papers
NM_015693.4
p.N132fs
c.394_395fs
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