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.T1572A

c.4714A>G

Surrounding Variants

1 paper

NM_001291303.3

p.D1571E

c.4713C>A

1 paper

NM_001291303.3

p.D1571E

c.4713C>G

1 paper

NM_001291303.3

p.D1573E

c.4719C>A

1 paper

NM_001291303.3

p.D1573E

c.4719C>G

1 paper

NM_001291303.3

p.T1574A

c.4720A>G

1 paper

NM_001291303.3

p.T1574T

c.4722C>A

2 papers

NM_001291303.3

p.E1566K

c.4696G>A

1 paper

NM_001291303.3

p.R1579S

c.4735C>A

1 paper

NM_001291303.3

p.R1579C

c.4735C>T

1 paper

NM_001291303.3

p.R1579L

c.4736G>T

1 paper

NM_001291303.3

p.Y1580F

c.4739A>T

1 paper

NM_001291303.3

p.E1562*

c.4684G>T