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.A1259D

c.3776C>A

Surrounding Variants

3 papers

NM_001291303.3

p.Q1257E

c.3769C>G

1 paper

NM_001291303.3

p.Q1266R

c.3797A>G

1 paper

NM_001291303.3

p.I1250M

c.3750A>G

1 paper

NM_001291303.3

p.L1244F

c.3730C>T

1 paper

NM_001291303.3

p.G1243E

c.3728G>A

1 paper

NM_001291303.3

p.N1241S

c.3722A>G

1 paper

NM_001291303.3

p.T1278A

c.3832A>G

1 paper

NM_001291303.3

p.E1239E

c.3717A>G

1 paper

NM_001291303.3

p.D1236E

c.3708T>A

1 paper

NM_001291303.3

p.D1236E

c.3708T>G

1 paper

NM_001291303.3

p.L1283I

c.3847C>A

1 paper

NM_001291303.3

p.R1231G

c.3691A>G