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.V873L

c.2617G>T

Surrounding Variants

1 paper

NM_001291303.3

p.V873L

c.2617G>C

1 paper

NM_001291303.3

p.T874I

c.2621C>T

1 paper

NM_001291303.3

p.T877del1

c.2629_2630delACT

1 paper

NM_001291303.3

p.S869_G870insT

c.2605_2609ins3

1 paper

NM_001291303.3

p.A868A

c.2604C>G

1 paper

NM_001291303.3

p.L864L

c.2590C>T

1 paper

NM_001291303.3

p.F861Y

c.2582T>A

2 papers

NM_001291303.3

p.Q859H

c.2577A>C

2 papers

NM_001291303.3

p.Q859H

c.2577A>T

1 paper

NM_001291303.3

p.H892R

c.2675A>G

1 paper

NM_001291303.3

p.V853L

c.2557G>C

1 paper

NM_001291303.3

p.V853L

c.2557G>T