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

5 papers

NM_024582.6

p.D2826N

c.8476G>A

NM_001291303.3

p.D2828N

c.8482G>A

Surrounding Variants

1 paper

NM_001291303.3

p.V2830V

c.8490C>T

1 paper

NM_001291303.3

p.P2819P

c.8457A>G

1 paper

NM_001291303.3

p.A2816S

c.8446G>T

1 paper

NM_001291303.3

p.R2842S

c.8524C>A

1 paper

NM_001291303.3

p.R2844*

c.8530A>T

1 paper

NM_001291303.3

p.A2849T

c.8545G>A

1 paper

NM_001291303.3

p.N2806D

c.8416A>G

1 paper

NM_001291303.3

p.V2796I

c.8386G>A

1 paper

NM_001291303.3

p.F2863S

c.8588T>C

1 paper

NM_001291303.3

p.D2869Y

c.8605G>T

1 paper

NM_001291303.3

p.D2869G

c.8606A>G

1 paper

NM_001291303.3

p.P2872A

c.8614C>G