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

7 papers

NM_001291303.3

p.R175L

c.524G>T

Surrounding Variants

2 papers

NM_001291303.3

p.R175H

c.524G>A

1 paper

NM_001291303.3

p.R175S

c.523C>A

1 paper

NM_001291303.3

p.Y174_R178Fs

c.522_534delinsGGFs

1 paper

NM_001291303.3

p.R172P

c.515G>C

1 paper

NM_001291303.3

p.R172S

c.514C>A

1 paper

NM_001291303.3

p.G179S

c.535G>A

1 paper

NM_001291303.3

p.G179C

c.535G>T

1 paper

NM_001291303.3

p.G179D

c.536G>A

1 paper

NM_001291303.3

p.N180Y

c.538A>T

1 paper

NM_001291303.3

p.N180I

c.539A>T

1 paper

NM_001291303.3

p.V169A

c.506T>C

3 papers

NM_001291303.3

p.A182V

c.545C>T