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.D1415V

c.4244A>T

Surrounding Variants

1 paper

NM_001291303.3

p.D1415G

c.4244A>G

1 paper

NM_001291303.3

p.D1415Y

c.4243G>T

1 paper

NM_001291303.3

p.N1416I

c.4247A>T

1 paper

NM_001291303.3

p.F1413fs

c.4237_4238fs

1 paper

NM_001291303.3

p.P1418T

c.4252C>A

1 paper

NM_001291303.3

p.D1412V

c.4235A>T

1 paper

NM_001291303.3

p.D1412delFs

c.4236delC

4 papers

NM_001291303.3

p.V1410M

c.4228G>A

1 paper

NM_001291303.3

p.H1409Q

c.4227C>A

1 paper

NM_001291303.3

p.H1409Q

c.4227C>G

1 paper

NM_001291303.3

p.I1425S

c.4274T>G

1 paper

NM_001291303.3

p.I1429N

c.4286T>A