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.E601G

c.1802A>G

Surrounding Variants

1 paper

NM_001291303.3

p.G599R

c.1795G>A

1 paper

NM_001291303.3

p.G599R

c.1795G>C

1 paper

NM_001291303.3

p.A607P

c.1819G>C

1 paper

NM_001291303.3

p.E594*

c.1780G>T

1 paper

NM_001291303.3

p.D609E

c.1827C>A

1 paper

NM_001291303.3

p.D609E

c.1827C>G

1 paper

NM_001291303.3

p.S591F

c.1772C>T

1 paper

NM_001291303.3

p.Y588C

c.1763A>G

1 paper

NM_001291303.3

p.D614E

c.1842C>G

1 paper

NM_001291303.3

p.G616R

c.1846G>A

1 paper

NM_001291303.3

p.G616R

c.1846G>C

1 paper

NM_001291303.3

p.T617P

c.1849A>C