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.D921_E922ins4

c.2761_2765ins12

Surrounding Variants

1 paper

NM_001291303.3

p.D921_E922ins6

c.2761_2765ins18

1 paper

NM_001291303.3

p.P920A

c.2758C>G

1 paper

NM_001291303.3

p.V918_D919insFs

c.2754_2755insA

1 paper

NM_001291303.3

p.N925S

c.2774A>G

1 paper

NM_001291303.3

p.M927I

c.2781G>A

1 paper

NM_001291303.3

p.M927I

c.2781G>C

1 paper

NM_001291303.3

p.M927I

c.2781G>T

1 paper

NM_001291303.3

p.Q914fs

c.2740_2741fs

1 paper

NM_001291303.3

p.F913insFs

c.2738dupT

1 paper

NM_001291303.3

p.Y930*

c.2790T>A

1 paper

NM_001291303.3

p.Y930*

c.2790T>G

1 paper

NM_001291303.3

p.K933Q

c.2797A>C