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.F913insFs

c.2738dupT

Surrounding Variants

1 paper

NM_001291303.3

p.Q914fs

c.2740_2741fs

1 paper

NM_001291303.3

p.A908S

c.2722G>T

1 paper

NM_001291303.3

p.Q907P

c.2720A>C

1 paper

NM_001291303.3

p.W906*

c.2718G>A

1 paper

NM_001291303.3

p.W906*

c.2717G>A

1 paper

NM_001291303.3

p.V918_D919insFs

c.2754_2755insA

1 paper

NM_001291303.3

p.P920A

c.2758C>G

1 paper

NM_001291303.3

p.D921_E922ins4

c.2761_2765ins12

1 paper

NM_001291303.3

p.D921_E922ins6

c.2761_2765ins18

1 paper

NM_001291303.3

p.V902L

c.2704G>C

1 paper

NM_001291303.3

p.V902del1

c.2704_2706delGTG

1 paper

NM_001291303.3

p.N901T

c.2702A>C