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.E1562*

c.4684G>T

Surrounding Variants

1 paper

NM_001291303.3

p.G1561R

c.4681G>A

1 paper

NM_001291303.3

p.G1561R

c.4681G>C

2 papers

NM_001291303.3

p.E1566K

c.4696G>A

1 paper

NM_001291303.3

p.E1557*

c.4669G>T

1 paper

NM_001291303.3

p.P1555Q

c.4664C>A

1 paper

NM_001291303.3

p.D1554insFs

c.4661_4662ins5

1 paper

NM_001291303.3

p.D1554insFs

c.4660_4661insA

1 paper

NM_001291303.3

p.D1554fs

c.4660_4661fs

1 paper

NM_001291303.3

p.D1571E

c.4713C>A

1 paper

NM_001291303.3

p.D1571E

c.4713C>G

1 paper

NM_001291303.3

p.A1552V

c.4655C>T

1 paper

NM_001291303.3

p.T1572A

c.4714A>G