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.S646delFs

c.1938delC

Surrounding Variants

1 paper

NM_001291303.3

p.L647S

c.1940T>C

1 paper

NM_001291303.3

p.T643I

c.1928C>T

2 papers

NM_001291303.3

p.S642R

c.1926T>A

1 paper

NM_001291303.3

p.P636L

c.1907C>T

1 paper

NM_001291303.3

p.S656S

c.1968C>T

2 papers

NM_001291303.3

p.R633H

c.1898G>A

1 paper

NM_001291303.3

p.F632F

c.1896C>T

1 paper

NM_001291303.3

p.A661G

c.1982C>G

1 paper

NM_001291303.3

p.G665delFs

c.1994delG

1 paper

NM_001291303.3

p.G665S

c.1993G>A

1 paper

NM_001291303.3

p.G665fs

c.1993_1994fs

1 paper

NM_001291303.3

p.Q623H

c.1869A>C