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.E301K

c.901G>A

Surrounding Variants

1 paper

NM_001291303.3

p.E301D

c.903G>C

1 paper

NM_001291303.3

p.E301D

c.903G>T

1 paper

NM_001291303.3

p.T302M

c.905C>T

1 paper

NM_001291303.3

p.G303R

c.907G>A

2 papers

NM_001291303.3

p.G303V

c.908G>T

1 paper

NM_001291303.3

p.V307L

c.919G>C

1 paper

NM_001291303.3

p.V307L

c.919G>T

1 paper

NM_001291303.3

p.V307_R308insFs

c.921_922ins4

1 paper

NM_001291303.3

p.V307_R308ins2

c.921_922ins6

2 papers

NM_001291303.3

p.R308L

c.923G>T

1 paper

NM_001291303.3

p.G293E

c.878G>A

2 papers

NM_001291303.3

p.G293R

c.877G>A