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.P2600H

c.7799C>A

Surrounding Variants

1 paper

NM_001291303.3

p.M2601V

c.7801A>G

1 paper

NM_001291303.3

p.E2599fs

c.7795_7796fs

2 papers

NM_001291303.3

p.S2602*

c.7805C>A

2 papers

NM_001291303.3

p.S2602*

c.7805C>G

1 paper

NM_001291303.3

p.L2596S

c.7787T>C

1 paper

NM_024582.6

p.S2584Y

c.7751C>A

1 paper

NM_001291303.3

p.P2583T

c.7747C>A

1 paper

NM_001291303.3

p.F2576F

c.7728C>T

1 paper

NM_001291303.3

p.A2571T

c.7711G>A

2 papers

NM_001291303.3

p.V2569V

c.7707G>C

NM_024582.6

p.V2567V

c.7701G>C

1 paper

NM_001291303.3

p.V2569M

c.7705G>A

1 paper

NM_001291303.3

p.D2565N

c.7693G>A