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.M1L

c.1A>C

Surrounding Variants

1 paper

NM_001291303.3

p.M1L

c.1A>T

1 paper

NM_001291303.3

p.D2delFs

c.4delG

1 paper

NM_001291303.3

p.L3insFs

c.7dupT

1 paper

NM_001291303.3

p.L3L

c.7T>C

1 paper

NM_001291303.3

p.L3V

c.7T>G

1 paper

NM_001291303.3

p.A4T

c.10G>A

1 paper

NM_001291303.3

p.A4P

c.10G>C

1 paper

NM_001291303.3

p.D6E

c.18C>A

1 paper

NM_001291303.3

p.D6E

c.18C>G

1 paper

NM_001291303.3

p.R7S

c.21G>C

1 paper

NM_001291303.3

p.R7S

c.21G>T

1 paper

NM_001291303.3

p.T9_G10insFs

c.27_28ins17