Varaico: Literature-Extracted Genetic Variants

Gene:INTU
Variant:p.E481Q

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.E481Q
c.1441G>C
Surrounding Variants
1 paper
NM_015693.4
p.T477P
c.1429A>C
1 paper
NM_015693.4
p.R474W
c.1420C>T
7 papers
NM_015693.4
p.A452T
c.1354G>A
1 paper
NM_015693.4
p.A446T
c.1336G>A
1 paper
NM_015693.4
p.R441S
c.1323A>C
1 paper
NM_015693.4
p.R441S
c.1323A>T
1 paper
NM_015693.4
p.Q440*
c.1318C>T
1 paper
NM_015693.4
p.R430C
c.1288C>T
1 paper
NM_015693.4
p.P429A
c.1285C>G
1 paper
NM_015693.4
p.E426Q
c.1276G>C
1 paper
NM_015693.4
p.I408fs
c.1222_1223fs
1 paper
NM_015693.4
p.V407delFs
c.1221delC
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