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.R1508S

c.4524A>T

Surrounding Variants

1 paper

NM_001291303.3

p.R1508S

c.4524A>C

1 paper

NM_001291303.3

p.R1509W

c.4525C>T

1 paper

NM_001291303.3

p.Y1510D

c.4528T>G

1 paper

NM_001291303.3

p.A1511S

c.4531G>T

1 paper

NM_001291303.3

p.E1506K

c.4516G>A

2 papers

NM_001291303.3

p.V1515M

c.4543G>A

1 paper

NM_001291303.3

p.I1517insFs

c.4549_4550insC

1 paper

NM_001291303.3

p.I1517L

c.4549A>C

1 paper

NM_001291303.3

p.L1518F

c.4554G>C

1 paper

NM_001291303.3

p.L1518F

c.4554G>T

1 paper

NM_001291303.3

p.V1519I

c.4555G>A

1 paper

NM_001291303.3

p.V1526delFs

c.4578delC