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.R735Q

c.2204G>A

Surrounding Variants

1 paper

NM_001291303.3

p.R735W

c.2203C>T

2 papers

NM_001291303.3

p.S734P

c.2200T>C

3 papers

NM_001291303.3

p.Q737L

c.2210A>T

1 paper

NM_001291303.3

p.V738I

c.2212G>A

1 paper

NM_001291303.3

p.D732N

c.2194G>A

1 paper

NM_001291303.3

p.S729C

c.2186C>G

1 paper

NM_001291303.3

p.S746_M749del4

c.2236_2246del12

1 paper

NM_001291303.3

p.S746P

c.2236T>C

1 paper

NM_001291303.3

p.T747I

c.2240C>T

1 paper

NM_001291303.3

p.A750T

c.2248G>A

1 paper

NM_001291303.3

p.A750D

c.2249C>A

1 paper

NM_001291303.3

p.G719A

c.2156G>C