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

3 papers

NM_001291303.3

p.A132T

c.394G>A

Surrounding Variants

1 paper

NM_001291303.3

p.N131N

c.393C>T

1 paper

NM_001291303.3

p.P133S

c.397C>T

1 paper

NM_001291303.3

p.V134I

c.400G>A

1 paper

NM_001291303.3

p.N129_D130insFs

c.387_388insC

3 papers

NM_001291303.3

p.F135F

c.405C>T

1 paper

NM_001291303.3

p.P136Q

c.407C>A

1 paper

NM_001291303.3

p.L124_V125delFs

c.370_373del4

1 paper

NM_001291303.3

p.V123M

c.367G>A

1 paper

NM_001291303.3

p.E120D

c.360A>T

1 paper

NM_001291303.3

p.T119fs

c.355_356fs

1 paper

NM_001291303.3

p.P118insFs

c.354dupC

1 paper

NM_001291303.3

p.A114A

c.342G>A