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.K1387T

c.4160A>C

Surrounding Variants

2 papers

NM_001291303.3

p.N1389Y

c.4165A>T

1 paper

NM_001291303.3

p.S1384Y

c.4151C>A

1 paper

NM_001291303.3

p.K1393delFs

c.4179delA

1 paper

NM_001291303.3

p.D1394fs

c.4180_4181fs

1 paper

NM_001291303.3

p.R1397G

c.4189A>G

1 paper

NM_001291303.3

p.P1399T

c.4195C>A

1 paper

NM_001291303.3

p.A1375V

c.4124C>T

1 paper

NM_001291303.3

p.A1375T

c.4123G>A

1 paper

NM_001291303.3

p.R1400R

c.4200T>C

1 paper

NM_001291303.3

p.G1370E

c.4109G>A

1 paper

NM_001291303.3

p.S1366I

c.4097G>T

1 paper

NM_001291303.3

p.H1409Q

c.4227C>A