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.V1086I

c.3256G>A

Surrounding Variants

1 paper

NM_001291303.3

p.V1084E

c.3251T>A

1 paper

NM_001291303.3

p.E1091K

c.3271G>A

1 paper

NM_001291303.3

p.P1079_L1080insACT

c.3235_3239ins9

1 paper

NM_001291303.3

p.P1079S

c.3235C>T

1 paper

NM_001291303.3

p.R1097T

c.3290G>C

1 paper

NM_001291303.3

p.V1071A

c.3212T>C

1 paper

NM_001291303.3

p.V1070I

c.3208G>A

1 paper

NM_001291303.3

p.T1103N

c.3308C>A

1 paper

NM_001291303.3

p.Y1066H

c.3196T>C

1 paper

NM_001291303.3

p.F1109F

c.3327C>T

1 paper

NM_001291303.3

p.L1062P

c.3185T>C

2 papers

NM_001291303.3

p.L1062R

c.3185T>G