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.S75fs

c.223_224fs

Surrounding Variants

1 paper

NM_001291303.3

p.L74insFs

c.221_222insGA

1 paper

NM_001291303.3

p.R73S

c.219G>C

1 paper

NM_001291303.3

p.R73S

c.219G>T

1 paper

NM_001291303.3

p.R73_L74delFs

c.219_220delGC

1 paper

NM_001291303.3

p.R73fs

c.217_218fs

1 paper

NM_001291303.3

p.T71I

c.212C>T

1 paper

NM_001291303.3

p.T71A

c.211A>G

1 paper

NM_001291303.3

p.F70L

c.210C>A

1 paper

NM_001291303.3

p.F70L

c.210C>G

1 paper

NM_001291303.3

p.F70L

c.208T>C

1 paper

NM_001291303.3

p.F81L

c.241T>C

1 paper

NM_001291303.3

p.F81L

c.243T>A