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.V3828I

c.11482G>A

Surrounding Variants

1 paper

NM_001291303.3

p.S3831I

c.11492G>T

1 paper

NM_001291303.3

p.R3832C

c.11494C>T

3 papers

NM_001291303.3

p.E3833G

c.11498A>G

1 paper

NM_001291303.3

p.R3821Q

c.11462G>A

4 papers

NM_001291303.3

p.R3821*

c.11461C>T

NM_024582.6

p.R3819*

c.11455C>T

1 paper

NM_001291303.3

p.C3819Y

c.11456G>A

1 paper

NM_001291303.3

p.I3838V

c.11512A>G

1 paper

NM_001291303.3

p.H3810R

c.11429A>G

4 papers

NM_001291303.3

p.S3802F

c.11405C>T

2 papers

NM_001291303.3

p.A3857V

c.11570C>T

1 paper

NM_001291303.3

p.G3797*

c.11389G>T

1 paper

NM_001291303.3

p.L3792F

c.11374C>T