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

4 papers

NM_001291303.3

p.I3604L

c.10810A>C

Surrounding Variants

1 paper

NM_001291303.3

p.M3596insFs

c.10787_10788ins5

1 paper

NM_001291303.3

p.M3596fs

c.10786_10787fs

1 paper

NM_001291303.3

p.Q3615*

c.10843C>T

1 paper

NM_001291303.3

p.S3616F

c.10847C>T

1 paper

NM_001291303.3

p.R3617W

c.10849C>T

1 paper

NM_001291303.3

p.R3617Q

c.10850G>A

2 papers

NM_001291303.3

p.T3618M

c.10853C>T

1 paper

NM_001291303.3

p.V3619G

c.10856T>G

1 paper

NM_001291303.3

p.E3620D

c.10860G>C

1 paper

NM_001291303.3

p.E3620D

c.10860G>T

1 paper

NM_001291303.3

p.F3622_V3623insFs

c.10866_10867ins5

1 paper

NM_001291303.3

p.V3623fs

c.10867_10868fs