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.D2323E

c.6969T>G

Surrounding Variants

1 paper

NM_001291303.3

p.D2323E

c.6969T>A

1 paper

NM_001291303.3

p.R2324W

c.6970C>T

1 paper

NM_001291303.3

p.S2321N

c.6962G>A

1 paper

NM_001291303.3

p.T2326I

c.6977C>T

1 paper

NM_001291303.3

p.K2327E

c.6979A>G

1 paper

NM_001291303.3

p.R2329S

c.6985C>A

7 papers

NM_001291303.3

p.R2329C

c.6985C>T

2 papers

NM_001291303.3

p.R2329H

c.6986G>A

1 paper

NM_001291303.3

p.G2317G

c.6951A>T

2 papers

NM_001291303.3

p.I2334N

c.7001T>A

1 paper

NM_001291303.3

p.A2312S

c.6934G>T

1 paper

NM_001291303.3

p.L2310P

c.6929T>C