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.E1642*

c.4924G>T

Surrounding Variants

1 paper

NM_001291303.3

p.I1635V

c.4903A>G

1 paper

NM_001291303.3

p.K1633I

c.4898A>T

1 paper

NM_001291303.3

p.K1633insFs

c.4898dupA

2 papers

NM_001291303.3

p.P1627fs

c.4879_4880fs

1 paper

NM_001291303.3

p.G1626A

c.4877G>C

2 papers

NM_001291303.3

p.G1626delFs

c.4878delA

1 paper

NM_001291303.3

p.E1660V

c.4979A>T

1 paper

NM_001291303.3

p.A1661S

c.4981G>T

1 paper

NM_001291303.3

p.L1617M

c.4849T>A

1 paper

NM_001291303.3

p.V1668A

c.5003T>C

6 papers

NM_001291303.3

p.R1671C

c.5011C>T

1 paper

NM_001291303.3

p.S1613T

c.4837T>A