Varaico: Literature-Extracted Genetic Variants

Gene:FAT4
Variant:p.G3875E

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_024582.6
p.G3875E
c.11624G>A
Surrounding Variants
5 papers
NM_001291303.3
p.S3875N
c.11624G>A
NM_024582.6
p.S3873N
c.11618G>A
5 papers
NM_001291303.3
p.C3873Y
c.11618G>A
1 paper
NM_001291303.3
p.V3883M
c.11647G>A
1 paper
NM_001291303.3
p.D3892N
c.11674G>A
2 papers
NM_001291303.3
p.A3857V
c.11570C>T
3 papers
NM_001291303.3
p.A3898V
c.11693C>T
1 paper
NM_001291303.3
p.D3902H
c.11704G>C
1 paper
NM_001291303.3
p.P3910L
c.11729C>T
1 paper
NM_001291303.3
p.K3912R
c.11735A>G
1 paper
NM_001291303.3
p.I3916_Q3918del0
c.11748_11753del6
1 paper
NM_001291303.3
p.I3838V
c.11512A>G
1 paper
NM_001291303.3
p.N3919Y
c.11755A>T
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