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.V1003I

c.3007G>A

Surrounding Variants

1 paper

NM_001291303.3

p.E1009*

c.3025G>T

1 paper

NM_001291303.3

p.V1011L

c.3031G>C

1 paper

NM_001291303.3

p.R1014R

c.3040C>A

1 paper

NM_001291303.3

p.Q1019Q

c.3057A>G

1 paper

NM_001291303.3

p.V986D

c.2957T>A

1 paper

NM_001291303.3

p.A1020T

c.3058G>A

4 papers

NM_001291303.3

p.K1023E

c.3067A>G

4 papers

NM_001291303.3

p.L982L

c.2944T>C

1 paper

NM_001291303.3

p.I981delFs

c.2941delA

1 paper

NM_001291303.3

p.G1029G

c.3087T>C

1 paper

NM_001291303.3

p.I1031_A1032delFs

c.3093_3096del4

1 paper

NM_001291303.3

p.A1032T

c.3094G>A