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.V779L

c.2335G>C

Surrounding Variants

1 paper

NM_001291303.3

p.V779L

c.2335G>T

1 paper

NM_001291303.3

p.P774P

c.2322C>T

1 paper

NM_001291303.3

p.L784M

c.2350T>A

1 paper

NM_001291303.3

p.G769D

c.2306G>A

1 paper

NM_001291303.3

p.Q795*

c.2383C>T

1 paper

NM_001291303.3

p.A758V

c.2273C>T

1 paper

NM_001291303.3

p.F800L

c.2398T>C

1 paper

NM_001291303.3

p.F800L

c.2400T>A

1 paper

NM_001291303.3

p.F800L

c.2400T>G

1 paper

NM_001291303.3

p.E754K

c.2260G>A

1 paper

NM_001291303.3

p.E754*

c.2260G>T

14 papers

NM_001291303.3

p.A807V

c.2420C>T