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.G665delFs

c.1994delG

Surrounding Variants

1 paper

NM_001291303.3

p.G665S

c.1993G>A

1 paper

NM_001291303.3

p.G665fs

c.1993_1994fs

1 paper

NM_001291303.3

p.A661G

c.1982C>G

1 paper

NM_001291303.3

p.Q669Q

c.2007G>A

1 paper

NM_001291303.3

p.S670P

c.2008T>C

1 paper

NM_001291303.3

p.S671*

c.2012C>A

1 paper

NM_001291303.3

p.S671*

c.2012C>G

1 paper

NM_001291303.3

p.S656S

c.1968C>T

1 paper

NM_001291303.3

p.M672I

c.2016G>A

1 paper

NM_001291303.3

p.R674H

c.2021G>A

2 papers

NM_001291303.3

p.N676H

c.2026A>C

1 paper

NM_001291303.3

p.V677delins

c.2029_2030delinsTT