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.P490L

c.1469C>T

Surrounding Variants

1 paper

NM_001291303.3

p.P490P

c.1470G>A

1 paper

NM_001291303.3

p.A488V

c.1463C>T

1 paper

NM_001291303.3

p.S492_Y493delins

c.1476_1477delinsTC

1 paper

NM_001291303.3

p.Y493H

c.1477T>C

1 paper

NM_001291303.3

p.Y493Y

c.1479T>C

1 paper

NM_001291303.3

p.E486K

c.1456G>A

3 papers

NM_001291303.3

p.E486Q

c.1456G>C

1 paper

NM_001291303.3

p.N483Y

c.1447A>T

1 paper

NM_001291303.3

p.A499D

c.1496C>A

1 paper

NM_001291303.3

p.R481I

c.1442G>T

1 paper

NM_001291303.3

p.T500N

c.1499C>A

1 paper

NM_001291303.3

p.V479M

c.1435G>A