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

3 papers

NM_001291303.3

p.K937N

c.2811G>T

Surrounding Variants

3 papers

NM_001291303.3

p.K937N

c.2811G>C

1 paper

NM_001291303.3

p.L939M

c.2815C>A

1 paper

NM_001291303.3

p.K933Q

c.2797A>C

1 paper

NM_001291303.3

p.N943K

c.2829T>A

1 paper

NM_001291303.3

p.N943K

c.2829T>G

1 paper

NM_001291303.3

p.Y930*

c.2790T>A

1 paper

NM_001291303.3

p.Y930*

c.2790T>G

1 paper

NM_001291303.3

p.K945N

c.2835G>C

1 paper

NM_001291303.3

p.K945N

c.2835G>T

1 paper

NM_001291303.3

p.M927I

c.2781G>A

1 paper

NM_001291303.3

p.M927I

c.2781G>C

1 paper

NM_001291303.3

p.M927I

c.2781G>T