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.V3235E

c.9704T>A

Surrounding Variants

3 papers

NM_001291303.3

p.H3217Y

c.9649C>T

1 paper

NM_001291303.3

p.G3212V

c.9635G>T

1 paper

NM_001291303.3

p.V3205I

c.9613G>A

1 paper

NM_001291303.3

p.D3199E

c.9597T>A

1 paper

NM_001291303.3

p.D3199E

c.9597T>G

1 paper

NM_001291303.3

p.F3273fs

c.9817_9818fs

1 paper

NM_001291303.3

p.V3275I

c.9823G>A

1 paper

NM_024582.6

p.V3193I

c.9577G>A

1 paper

NM_001291303.3

p.C3281insFs

c.9841_9842insTG

1 paper

NM_001291303.3

p.C3281insFs

c.9841_9842ins5

1 paper

NM_001291303.3

p.C3281fs

c.9841_9842fs

1 paper

NM_001291303.3

p.V3186M

c.9556G>A