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.L219L

c.657G>A

Surrounding Variants

1 paper

NM_001291303.3

p.L219_V220del2

c.655_659del6

1 paper

NM_001291303.3

p.E221K

c.661G>A

1 paper

NM_001291303.3

p.E221_V222insGA

c.661_665ins6

1 paper

NM_001291303.3

p.E221_R231del0

c.662_691del30

1 paper

NM_001291303.3

p.E221A

c.662A>C

1 paper

NM_001291303.3

p.K225E

c.673A>G

2 papers

NM_001291303.3

p.K229R

c.686A>G

1 paper

NM_001291303.3

p.D209N

c.625G>A

2 papers

NM_001291303.3

p.R231W

c.691C>T

1 paper

NM_001291303.3

p.L208delFs

c.623delT

1 paper

NM_001291303.3

p.G206S

c.616G>A

1 paper

NM_001291303.3

p.S204F

c.611C>T