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.G519E

c.1556G>A

Surrounding Variants

1 paper

NM_001291303.3

p.W522*

c.1566G>A

1 paper

NM_001291303.3

p.V515L

c.1543G>C

1 paper

NM_001291303.3

p.S526S

c.1578T>C

1 paper

NM_001291303.3

p.E527*

c.1579G>T

1 paper

NM_001291303.3

p.H528R

c.1583A>G

1 paper

NM_001291303.3

p.L510R

c.1529T>G

1 paper

NM_001291303.3

p.S529S

c.1587C>T

1 paper

NM_001291303.3

p.A508V

c.1523C>T

1 paper

NM_001291303.3

p.L506F

c.1516C>T

1 paper

NM_001291303.3

p.G502D

c.1505G>A

1 paper

NM_001291303.3

p.T500N

c.1499C>A

1 paper

NM_001291303.3

p.G539S

c.1615G>A