Varaico: Literature-Extracted Genetic Variants

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.R288C

c.862C>T

Surrounding Variants

1 paper

NM_001291303.3

p.R288_L289insC

c.862_866ins3

1 paper

NM_001291303.3

p.R288G

c.862C>G

1 paper

NM_001291303.3

p.L289M

c.865C>A

1 paper

NM_001291303.3

p.Q290insFs

c.869_870insT

1 paper

NM_001291303.3

p.E292*

c.874G>T

1 paper

NM_001291303.3

p.A283V

c.848C>T

2 papers

NM_001291303.3

p.G293R

c.877G>A

1 paper

NM_001291303.3

p.G293R

c.877G>C

1 paper

NM_001291303.3

p.G293E

c.878G>A

1 paper

NM_001291303.3

p.T281I

c.842C>T

1 paper

NM_001291303.3

p.A277A

c.831G>A

1 paper

NM_001291303.3

p.A277V

c.830C>T