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.R26fs

c.76_77fs

Surrounding Variants

1 paper

NM_001291303.3

p.R26*

c.76C>T

1 paper

NM_001291303.3

p.Q23Q

c.69G>A

1 paper

NM_001291303.3

p.V21G

c.62T>G

1 paper

NM_001291303.3

p.L31L

c.91C>T

1 paper

NM_001291303.3

p.S32S

c.96A>G

1 paper

NM_001291303.3

p.L33V

c.97T>G

1 paper

NM_001291303.3

p.T18S

c.52A>T

1 paper

NM_001291303.3

p.W13*

c.38G>A

1 paper

NM_001291303.3

p.R11G

c.31C>G

1 paper

NM_001291303.3

p.T9_G10insFs

c.27_28ins17

1 paper

NM_001291303.3

p.R7S

c.21G>C

1 paper

NM_001291303.3

p.R7S

c.21G>T