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

2 papers

NM_001291303.3

p.R1679H

c.5036G>A

Surrounding Variants

3 papers

NM_001291303.3

p.R1679C

c.5035C>T

1 paper

NM_001291303.3

p.G1678fs

c.5032_5033fs

1 paper

NM_001291303.3

p.T1676fs

c.5026_5027fs

3 papers

NM_001291303.3

p.R1685*

c.5053C>T

1 paper

NM_001291303.3

p.R1685Q

c.5054G>A

1 paper

NM_001291303.3

p.R1685L

c.5054G>T

1 paper

NM_001291303.3

p.R1671P

c.5012G>C

6 papers

NM_001291303.3

p.R1671C

c.5011C>T

1 paper

NM_001291303.3

p.V1668A

c.5003T>C

1 paper

NM_001291303.3

p.A1693T

c.5077G>A

1 paper

NM_001291303.3

p.A1661S

c.4981G>T

1 paper

NM_001291303.3

p.R1698W

c.5092C>T