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.A566T

c.1696G>A

Surrounding Variants

1 paper

NM_001291303.3

p.S564P

c.1690T>C

1 paper

NM_001291303.3

p.V563L

c.1687G>T

1 paper

NM_001291303.3

p.P561L

c.1682C>T

1 paper

NM_001291303.3

p.T571P

c.1711A>C

1 paper

NM_001291303.3

p.R555Q

c.1664G>A

1 paper

NM_001291303.3

p.R555fs

c.1663_1664fs

3 papers

NM_001291303.3

p.A554T

c.1660G>A

1 paper

NM_001291303.3

p.R555delFs

c.1663delC

2 papers

NM_001291303.3

p.L550Q

c.1649T>A

1 paper

NM_001291303.3

p.I548V

c.1642A>G

1 paper

NM_001291303.3

p.Q584H

c.1752G>C

1 paper

NM_001291303.3

p.Q584H

c.1752G>T