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.I981delFs

c.2941delA

Surrounding Variants

4 papers

NM_001291303.3

p.L982L

c.2944T>C

1 paper

NM_001291303.3

p.V986D

c.2957T>A

1 paper

NM_001291303.3

p.G972S

c.2914G>A

1 paper

NM_001291303.3

p.M971T

c.2912T>C

1 paper

NM_001291303.3

p.A968T

c.2902G>A

1 paper

NM_001291303.3

p.E965D

c.2895G>C

1 paper

NM_001291303.3

p.E965D

c.2895G>T

1 paper

NM_001291303.3

p.E965V

c.2894A>T

1 paper

NM_001291303.3

p.G960D

c.2879G>A

1 paper

NM_001291303.3

p.A959T

c.2875G>A

1 paper

NM_001291303.3

p.V1003I

c.3007G>A

1 paper

NM_001291303.3

p.E1009*

c.3025G>T