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

2 papers

NM_001291303.3

p.M3520I

c.10560G>C

Surrounding Variants

2 papers

NM_001291303.3

p.M3520I

c.10560G>A

2 papers

NM_001291303.3

p.M3520I

c.10560G>T

1 paper

NM_001291303.3

p.E3518*

c.10552G>T

6 papers

NM_001291303.3

p.R3524Q

c.10571G>A

5 papers

NM_001291303.3

p.G3526D

c.10577G>A

2 papers

NM_001291303.3

p.G3509R

c.10525G>A

2 papers

NM_001291303.3

p.G3509R

c.10525G>C

1 paper

NM_001291303.3

p.D3504delFs

c.10511delA

1 paper

NM_001291303.3

p.L3539F

c.10615C>T

1 paper

NM_001291303.3

p.Q3543K

c.10627C>A

1 paper

NM_001291303.3

p.P3545L

c.10634C>T

1 paper

NM_001291303.3

p.T3493K

c.10478C>A