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.P102S

c.304C>T

Surrounding Variants

1 paper

NM_001291303.3

p.S103S

c.309C>T

1 paper

NM_001291303.3

p.D104Y

c.310G>T

1 paper

NM_001291303.3

p.D104_I106Fs

c.312_317delinsAGFs

1 paper

NM_001291303.3

p.I96_D97insFs

c.288_289insC

1 paper

NM_001291303.3

p.S94P

c.280T>C

1 paper

NM_001291303.3

p.T93S

c.277A>T

1 paper

NM_001291303.3

p.S113N

c.338G>A

1 paper

NM_001291303.3

p.A114T

c.340G>A

1 paper

NM_001291303.3

p.A114V

c.341C>T

1 paper

NM_001291303.3

p.A114A

c.342G>A

1 paper

NM_001291303.3

p.P118insFs

c.354dupC

1 paper

NM_001291303.3

p.S86G

c.256A>G