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

14 papers

NM_001291303.3

p.Q453L

c.1358A>T

Surrounding Variants

1 paper

NM_001291303.3

p.Q453*

c.1357C>T

1 paper

NM_001291303.3

p.A454E

c.1361C>A

1 paper

NM_001291303.3

p.R455C

c.1363C>T

1 paper

NM_001291303.3

p.A451fs

c.1351_1352fs

1 paper

NM_001291303.3

p.A450T

c.1348G>A

1 paper

NM_001291303.3

p.A450_R455delFs

c.1350_1363del14

1 paper

NM_001291303.3

p.P447L

c.1340C>T

1 paper

NM_001291303.3

p.A446E

c.1337C>A

1 paper

NM_001291303.3

p.A446V

c.1337C>T

1 paper

NM_001291303.3

p.A446T

c.1336G>A

2 papers

NM_001291303.3

p.G445R

c.1333G>A

2 papers

NM_001291303.3

p.G445R

c.1333G>C