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.S827I

c.2480G>T

Surrounding Variants

1 paper

NM_001291303.3

p.S827C

c.2479A>T

1 paper

NM_001291303.3

p.S827R

c.2481T>A

1 paper

NM_001291303.3

p.L829F

c.2485C>T

1 paper

NM_001291303.3

p.L829R

c.2486T>G

1 paper

NM_001291303.3

p.N823S

c.2468A>G

1 paper

NM_001291303.3

p.T831N

c.2492C>A

1 paper

NM_001291303.3

p.L822L

c.2466C>T

1 paper

NM_001291303.3

p.L822F

c.2464C>T

1 paper

NM_001291303.3

p.G833delFs

c.2497delG

1 paper

NM_001291303.3

p.D834fs

c.2500_2501fs

1 paper

NM_001291303.3

p.S816fs

c.2446_2447fs

1 paper

NM_001291303.3

p.V815_S816delFs

c.2445_2446delGT