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

2 papers

NM_001291303.3

p.D1059E

c.3177C>A

Surrounding Variants

2 papers

NM_001291303.3

p.D1059E

c.3177C>G

1 paper

NM_001291303.3

p.D1059D

c.3177C>T

1 paper

NM_001291303.3

p.L1062P

c.3185T>C

2 papers

NM_001291303.3

p.L1062R

c.3185T>G

1 paper

NM_001291303.3

p.S1056G

c.3166A>G

1 paper

NM_001291303.3

p.Y1066H

c.3196T>C

1 paper

NM_001291303.3

p.Q1051Q

c.3153A>G

1 paper

NM_001291303.3

p.V1070I

c.3208G>A

1 paper

NM_001291303.3

p.V1071A

c.3212T>C

1 paper

NM_001291303.3

p.G1045G

c.3135C>T

1 paper

NM_001291303.3

p.G1045D

c.3134G>A

1 paper

NM_001291303.3

p.P1079_L1080insACT

c.3235_3239ins9