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.I1471T

c.4412T>C

Surrounding Variants

1 paper

NM_001291303.3

p.I1471fs

c.4411_4412fs

1 paper

NM_001291303.3

p.T1470insFs

c.4409_4410ins5

3 papers

NM_001291303.3

p.H1468R

c.4403A>G

1 paper

NM_001291303.3

p.G1476R

c.4426G>A

1 paper

NM_001291303.3

p.G1476R

c.4426G>C

1 paper

NM_001291303.3

p.I1478L

c.4432A>C

1 paper

NM_001291303.3

p.I1478V

c.4432A>G

1 paper

NM_001291303.3

p.I1478L

c.4432A>T

1 paper

NM_001291303.3

p.P1464L

c.4391C>T

1 paper

NM_001291303.3

p.Q1462delFs

c.4385_4386delAG

1 paper

NM_001291303.3

p.S1456F

c.4367C>T

1 paper

NM_001291303.3

p.R1486L

c.4457G>T