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.S2754_Q2755insA

c.8260_8264ins3

Surrounding Variants

1 paper

NM_001291303.3

p.G2751G

c.8253G>A

1 paper

NM_001291303.3

p.S2748L

c.8243C>T

1 paper

NM_001291303.3

p.N2764H

c.8290A>C

1 paper

NM_001291303.3

p.E2768*

c.8302G>T

1 paper

NM_001291303.3

p.E2768V

c.8303A>T

1 paper

NM_001291303.3

p.D2770V

c.8309A>T

1 paper

NM_001291303.3

p.V2730V

c.8190T>C

1 paper

NM_001291303.3

p.H2782Y

c.8344C>T

1 paper

NM_001291303.3

p.V2796I

c.8386G>A

1 paper

NM_001291303.3

p.V2710F

c.8128G>T

1 paper

NM_001291303.3

p.Q2704_D2706del3

c.8110_8117del9

1 paper

NM_001291303.3

p.N2806D

c.8416A>G