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.R3770Q

c.11309G>A

Surrounding Variants

1 paper

NM_001291303.3

p.R3770*

c.11308C>T

1 paper

NM_001291303.3

p.L3764R

c.11291T>G

1 paper

NM_001291303.3

p.P3778P

c.11334C>A

1 paper

NM_001291303.3

p.L3792F

c.11374C>T

1 paper

NM_001291303.3

p.T3744T

c.11232A>G

1 paper

NM_001291303.3

p.G3797*

c.11389G>T

4 papers

NM_001291303.3

p.S3802F

c.11405C>T

1 paper

NM_001291303.3

p.H3734delFs

c.11202delT

1 paper

NM_001291303.3

p.H3734fs

c.11200_11201fs

1 paper

NM_001291303.3

p.H3810R

c.11429A>G

1 paper

NM_001291303.3

p.F3727L

c.11181C>A

1 paper

NM_001291303.3

p.F3727L

c.11181C>G