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.S395S

c.1185C>T

Surrounding Variants

1 paper

NM_001291303.3

p.V396A

c.1187T>C

1 paper

NM_001291303.3

p.L399delFs

c.1195delC

2 papers

NM_001291303.3

p.L399fs

c.1195_1196fs

1 paper

NM_001291303.3

p.N391N

c.1173C>T

1 paper

NM_001291303.3

p.G401D

c.1202G>A

1 paper

NM_001291303.3

p.S387_P388insC

c.1159_1163ins3

1 paper

NM_001291303.3

p.L379R

c.1136T>G

3 papers

NM_001291303.3

p.K413E

c.1237A>G

4 papers

NM_001291303.3

p.P415R

c.1244C>G

1 paper

NM_001291303.3

p.G374S

c.1120G>A

1 paper

NM_001291303.3

p.S418delFs

c.1252delA

1 paper

NM_001291303.3

p.Q372E

c.1114C>G