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.P1527T

c.4579C>A

Surrounding Variants

1 paper

NM_001291303.3

p.P1527fs

c.4579_4580fs

1 paper

NM_001291303.3

p.V1526delFs

c.4578delC

1 paper

NM_001291303.3

p.I1530T

c.4589T>C

1 paper

NM_001291303.3

p.A1534T

c.4600G>A

1 paper

NM_001291303.3

p.V1519I

c.4555G>A

1 paper

NM_001291303.3

p.L1518F

c.4554G>C

1 paper

NM_001291303.3

p.L1518F

c.4554G>T

1 paper

NM_001291303.3

p.L1535R

c.4604T>G

1 paper

NM_001291303.3

p.I1517insFs

c.4549_4550insC

1 paper

NM_001291303.3

p.I1517L

c.4549A>C

2 papers

NM_001291303.3

p.A1537A

c.4611A>T

1 paper

NM_001291303.3

p.D1538Y

c.4612G>T