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_024582.6

p.R2685Q

c.8054G>A

Surrounding Variants

1 paper

NM_001291303.3

p.S2685S

c.8055C>T

1 paper

NM_001291303.3

p.L2684I

c.8050C>A

1 paper

NM_001291303.3

p.N2683N

c.8049C>T

1 paper

NM_001291303.3

p.T2691I

c.8072C>T

1 paper

NM_001291303.3

p.S2693L

c.8078C>T

1 paper

NM_001291303.3

p.I2680T

c.8039T>C

6 papers

NM_024582.6

p.D2672V

c.8015A>T

NM_001291303.3

p.D2674V

c.8021A>T

1 paper

NM_001291303.3

p.K2672M

c.8015A>T

1 paper

NM_001291303.3

p.Q2704_D2706del3

c.8110_8117del9

1 paper

NM_001291303.3

p.D2666N

c.7996G>A

1 paper

NM_001291303.3

p.V2710F

c.8128G>T

1 paper

NM_001291303.3

p.E2655*

c.7963G>T