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.T1298M

c.3893C>T

Surrounding Variants

1 paper

NM_001291303.3

p.S1297*

c.3890C>A

1 paper

NM_001291303.3

p.S1297*

c.3890C>G

1 paper

NM_001291303.3

p.N1302delFs

c.3904delA

1 paper

NM_001291303.3

p.P1294P

c.3882C>T

1 paper

NM_001291303.3

p.P1294L

c.3881C>T

1 paper

NM_001291303.3

p.P1294S

c.3880C>T

1 paper

NM_001291303.3

p.I1305V

c.3913A>G

1 paper

NM_001291303.3

p.N1311D

c.3931A>G

1 paper

NM_001291303.3

p.T1312A

c.3934A>G

1 paper

NM_001291303.3

p.P1313S

c.3937C>T

1 paper

NM_001291303.3

p.P1313H

c.3938C>A

1 paper

NM_001291303.3

p.L1283I

c.3847C>A