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.E1725D

c.5175G>C

Surrounding Variants

1 paper

NM_001291303.3

p.E1725D

c.5175G>T

1 paper

NM_001291303.3

p.E1725_V1726Splc

c.5175+6G>T

1 paper

NM_001291303.3

p.R1720I

c.5159G>T

1 paper

NM_001291303.3

p.Y1710delFs

c.5129delA

1 paper

NM_001291303.3

p.Y1710fs

c.5128_5129fs

2 papers

NM_001291303.3

p.L1706M

c.5116C>A

1 paper

NM_001291303.3

p.R1698W

c.5092C>T

1 paper

NM_001291303.3

p.A1693T

c.5077G>A

1 paper

NM_001291303.3

p.R1685Q

c.5054G>A

1 paper

NM_001291303.3

p.R1685L

c.5054G>T

3 papers

NM_001291303.3

p.R1685*

c.5053C>T

2 papers

NM_001291303.3

p.R1679H

c.5036G>A