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.M1328L

c.3982A>T

Surrounding Variants

2 papers

NM_001291303.3

p.M1328L

c.3982A>C

2 papers

NM_001291303.3

p.M1328V

c.3982A>G

2 papers

NM_001291303.3

p.M1328T

c.3983T>C

3 papers

NM_001291303.3

p.M1328R

c.3983T>G

1 paper

NM_001291303.3

p.M1328I

c.3984G>A

1 paper

NM_001291303.3

p.M1328I

c.3984G>C

1 paper

NM_001291303.3

p.M1328I

c.3984G>T

2 papers

NM_001291303.3

p.V1334M

c.4000G>A

1 paper

NM_001291303.3

p.V1322I

c.3964G>A

1 paper

NM_001291303.3

p.A1339E

c.4016C>A

1 paper

NM_001291303.3

p.P1316A

c.3946C>G

1 paper

NM_001291303.3

p.S1314C

c.3941C>G