Varaico: Literature-Extracted Genetic Variants

Gene:FAT4
Variant:p.I3446V

FAT4

534 papers

RefSeq Summary

The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cau...

Pfam Domains

Cadherin_FAT4_Naa 43–127UCSCFAT4-like, N-terminal cadherin-like domain
Cadherinaa 140–241UCSCCadherin domain
Cadherinaa 255–344UCSCCadherin domain
Cadherinaa 363–466UCSCCadherin domain
Cadherinaa 480–573UCSCCadherin domain
Cadherinaa 588–680UCSCCadherin domain

Gene Aliases

HGNC Name

FAT atypical cadherin 4

HGNC Alias Symbols

CDHF14; FAT-J; CDHR11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001291303.3
p.I3446V
c.10336A>G
Surrounding Variants
1 paper
NM_001291303.3
p.Y3444Y
c.10332C>T
1 paper
NM_001291303.3
p.S3438N
c.10313G>A
1 paper
NM_001291303.3
p.A3454D
c.10361C>A
1 paper
NM_001291303.3
p.P3437H
c.10310C>A
1 paper
NM_001291303.3
p.I3436I
c.10308C>T
1 paper
NM_001291303.3
p.S3435F
c.10304C>T
1 paper
NM_001291303.3
p.Q3463*
c.10387C>T
1 paper
NM_001291303.3
p.I3464V
c.10390A>G
1 paper
NM_001291303.3
p.V3466I
c.10396G>A
1 paper
NM_024582.6
p.T3421P
c.10261A>C
1 paper
NM_001291303.3
p.D3471H
c.10411G>C
1 paper
NM_001291303.3
p.V3419I
c.10255G>A
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