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.E338A

c.1013A>C

Surrounding Variants

1 paper

NM_001291303.3

p.E338K

c.1012G>A

1 paper

NM_001291303.3

p.A339V

c.1016C>T

1 paper

NM_001291303.3

p.R336C

c.1006C>T

1 paper

NM_001291303.3

p.G329D

c.986G>A

1 paper

NM_001291303.3

p.G329C

c.985G>T

1 paper

NM_001291303.3

p.P351L

c.1052C>T

1 paper

NM_001291303.3

p.V352A

c.1055T>C

1 paper

NM_001291303.3

p.K354T

c.1061A>C

1 paper

NM_001291303.3

p.V323delFs

c.967delG

1 paper

NM_001291303.3

p.T322A

c.964A>G

1 paper

NM_001291303.3

p.R356C

c.1066C>T

1 paper

NM_001291303.3

p.S320L

c.959C>T