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.S1220T

c.3658T>A

Surrounding Variants

1 paper

NM_001291303.3

p.I1219T

c.3656T>C

1 paper

NM_001291303.3

p.Y1215D

c.3643T>G

1 paper

NM_001291303.3

p.N1225K

c.3675T>A

1 paper

NM_001291303.3

p.N1225K

c.3675T>G

2 papers

NM_001291303.3

p.Q1228E

c.3682C>G

1 paper

NM_001291303.3

p.V1229L

c.3685G>C

2 papers

NM_001291303.3

p.V1229L

c.3685G>T

1 paper

NM_001291303.3

p.R1231G

c.3691A>G

1 paper

NM_001291303.3

p.A1207S

c.3619G>T

1 paper

NM_001291303.3

p.N1204H

c.3610A>C

1 paper

NM_001291303.3

p.D1236E

c.3708T>A

1 paper

NM_001291303.3

p.D1236E

c.3708T>G