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.G2528R

c.7582G>A

Surrounding Variants

1 paper

NM_001291303.3

p.G2528R

c.7582G>C

1 paper

NM_001291303.3

p.A2527V

c.7580C>T

2 papers

NM_001291303.3

p.A2527T

c.7579G>A

1 paper

NM_001291303.3

p.G2532R

c.7594G>A

1 paper

NM_001291303.3

p.G2532R

c.7594G>C

1 paper

NM_001291303.3

p.E2535*

c.7603G>T

1 paper

NM_001291303.3

p.G2509C

c.7525G>T

1 paper

NM_001291303.3

p.S2506F

c.7517C>T

1 paper

NM_001291303.3

p.L2503Q

c.7508T>A

1 paper

NM_001291303.3

p.T2554S

c.7660A>T

1 paper

NM_001291303.3

p.F2560L

c.7678T>C

1 paper

NM_001291303.3

p.F2560L

c.7680C>A