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.R3299L

c.9896G>T

Surrounding Variants

1 paper

NM_001291303.3

p.R3299C

c.9895C>T

1 paper

NM_001291303.3

p.T3293T

c.9879A>T

1 paper

NM_001291303.3

p.P3314P

c.9942T>C

1 paper

NM_001291303.3

p.G3316C

c.9946G>T

1 paper

NM_001291303.3

p.C3281insFs

c.9841_9842insTG

1 paper

NM_001291303.3

p.C3281insFs

c.9841_9842ins5

1 paper

NM_001291303.3

p.C3281fs

c.9841_9842fs

1 paper

NM_001291303.3

p.V3275I

c.9823G>A

1 paper

NM_001291303.3

p.S3325N

c.9974G>A

1 paper

NM_001291303.3

p.F3273fs

c.9817_9818fs

1 paper

NM_001291303.3

p.D3332N

c.9994G>A

1 paper

NM_001291303.3

p.V3335_H3336ins2

c.10005_10006ins6