Varaico: Literature-Extracted Genetic Variants

Gene:FAT4
Variant:p.A273V

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
3 papers
NM_001291303.3
p.A273V
c.818C>T
Surrounding Variants
1 paper
NM_001291303.3
p.V272M
c.814G>A
1 paper
NM_001291303.3
p.A274A
c.822G>A
1 paper
NM_001291303.3
p.A275E
c.824C>A
1 paper
NM_001291303.3
p.V269V
c.807C>T
1 paper
NM_001291303.3
p.A277T
c.829G>A
1 paper
NM_001291303.3
p.A277V
c.830C>T
1 paper
NM_001291303.3
p.A277A
c.831G>A
1 paper
NM_001291303.3
p.S268G
c.802A>G
1 paper
NM_001291303.3
p.S267P
c.799T>C
1 paper
NM_001291303.3
p.G266D
c.797G>A
1 paper
NM_001291303.3
p.T281I
c.842C>T
1 paper
NM_001291303.3
p.A283V
c.848C>T
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