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.L540M

c.1618C>A

Surrounding Variants

1 paper

NM_001291303.3

p.G539S

c.1615G>A

1 paper

NM_001291303.3

p.G539fs

c.1615_1616fs

1 paper

NM_001291303.3

p.A545S

c.1633G>T

1 paper

NM_001291303.3

p.I548V

c.1642A>G

1 paper

NM_001291303.3

p.S529S

c.1587C>T

2 papers

NM_001291303.3

p.L550Q

c.1649T>A

1 paper

NM_001291303.3

p.H528R

c.1583A>G

1 paper

NM_001291303.3

p.E527*

c.1579G>T

1 paper

NM_001291303.3

p.S526S

c.1578T>C

3 papers

NM_001291303.3

p.A554T

c.1660G>A

1 paper

NM_001291303.3

p.R555delFs

c.1663delC

1 paper

NM_001291303.3

p.R555fs

c.1663_1664fs