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.D2359V

c.7076A>T

Surrounding Variants

1 paper

NM_001291303.3

p.N2360D

c.7078A>G

1 paper

NM_001291303.3

p.V2361F

c.7081G>T

1 paper

NM_001291303.3

p.F2364V

c.7090T>G

1 paper

NM_001291303.3

p.S2366I

c.7097G>T

1 paper

NM_001291303.3

p.V2352I

c.7054G>A

1 paper

NM_001291303.3

p.A2368E

c.7103C>A

1 paper

NM_001291303.3

p.Y2369H

c.7105T>C

1 paper

NM_001291303.3

p.Y2369*

c.7107T>A

1 paper

NM_001291303.3

p.Y2369*

c.7107T>G

1 paper

NM_001291303.3

p.G2348E

c.7043G>A

1 paper

NM_001291303.3

p.I2373V

c.7117A>G

1 paper

NM_001291303.3

p.T2347_T2349ins1

c.7041_7046dup6