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

1–12 of 1370 variants

14 papers

NM_001291303.3

p.Q453L

c.1358A>T

14 papers

NM_001291303.3

p.A807V

c.2420C>T

9 papers

NM_001291303.3

p.P247T

c.739C>A

7 papers

NM_001291303.3

p.R175L

c.524G>T

7 papers

NM_001291303.3

p.R2329C

c.6985C>T

6 papers

NM_001291303.3

p.R1671C

c.5011C>T

6 papers

NM_001291303.3

p.R3524Q

c.10571G>A

5 papers

NM_001291303.3

p.E2375K

c.7123G>A

5 papers

NM_001291303.3

p.D2674V

c.8021A>T

5 papers

NM_001291303.3

p.G3526D

c.10577G>A

5 papers

NM_001291303.3

p.C3873Y

c.11618G>A

5 papers

NM_001291303.3

p.S3875N

c.11624G>A