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.V3359F

c.10075G>T

Surrounding Variants

1 paper

NM_001291303.3

p.R3365Q

c.10094G>A

1 paper

NM_001291303.3

p.S3372Y

c.10115C>A

1 paper

NM_001291303.3

p.K3345N

c.10035G>C

1 paper

NM_001291303.3

p.K3345N

c.10035G>T

1 paper

NM_001291303.3

p.R3344Q

c.10031G>A

1 paper

NM_001291303.3

p.R3344*

c.10030C>T

1 paper

NM_001291303.3

p.V3375A

c.10124T>C

1 paper

NM_001291303.3

p.L3338insFs

c.10014dupG

1 paper

NM_001291303.3

p.V3335_H3336ins2

c.10005_10006ins6

1 paper

NM_001291303.3

p.R3384S

c.10152A>C

1 paper

NM_001291303.3

p.D3332N

c.9994G>A

1 paper

NM_001291303.3

p.D3387N

c.10159G>A