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.N246fs

c.736_737fs

Surrounding Variants

1 paper

NM_001291303.3

p.N246insFs

c.738dupC

2 papers

NM_001291303.3

p.N246K

c.738C>A

2 papers

NM_001291303.3

p.N246K

c.738C>G

9 papers

NM_001291303.3

p.P247T

c.739C>A

2 papers

NM_001291303.3

p.P247S

c.739C>T

1 paper

NM_001291303.3

p.P247H

c.740C>A

1 paper

NM_001291303.3

p.V249fs

c.745_746fs

1 paper

NM_001291303.3

p.V249_F250delFs

c.746_749del4

1 paper

NM_001291303.3

p.H254H

c.762C>T

1 paper

NM_001291303.3

p.Y255*

c.765C>A

1 paper

NM_001291303.3

p.Y255*

c.765C>G

1 paper

NM_001291303.3

p.A257E

c.770C>A