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.N1359S

c.4076A>G

Surrounding Variants

1 paper

NM_001291303.3

p.N1359T

c.4076A>C

1 paper

NM_001291303.3

p.N1358K

c.4074C>A

1 paper

NM_001291303.3

p.N1358K

c.4074C>G

1 paper

NM_001291303.3

p.G1361R

c.4081G>A

2 papers

NM_001291303.3

p.T1357S

c.4070C>G

2 papers

NM_001291303.3

p.T1357S

c.4069A>T

1 paper

NM_001291303.3

p.T1355I

c.4064C>T

1 paper

NM_001291303.3

p.S1364R

c.4090A>C

1 paper

NM_001291303.3

p.S1364N

c.4091G>A

1 paper

NM_001291303.3

p.S1364R

c.4092C>A

1 paper

NM_001291303.3

p.S1364R

c.4092C>G

1 paper

NM_001291303.3

p.S1366I

c.4097G>T