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.F3058V

c.9172T>G

Surrounding Variants

1 paper

NM_001291303.3

p.A3046T

c.9136G>A

1 paper

NM_001291303.3

p.Q3093_M3096del4

c.9277_9287del12

2 papers

NM_001291303.3

p.Q3093H

c.9279A>C

1 paper

NM_001291303.3

p.Q3093H

c.9279A>T

1 paper

NM_001291303.3

p.H3095R

c.9284A>G

1 paper

NM_001291303.3

p.S3097N

c.9290G>A

1 paper

NM_001291303.3

p.A3098E

c.9293C>A

1 paper

NM_001291303.3

p.T3099A

c.9295A>G

1 paper

NM_001291303.3

p.V2998A

c.8993T>C

1 paper

NM_001291303.3

p.D3119Y

c.9355G>T

1 paper

NM_001291303.3

p.P2993S

c.8977C>T

1 paper

NM_001291303.3

p.S3129fs

c.9385_9386fs