Varaico: Literature-Extracted Genetic Variants

FAT1

1,026 papers

RefSeq Summary

This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the ca...

Pfam Domains

Cadherinaa 154–248UCSCCadherin domain

Cadherinaa 468–560UCSCCadherin domain

Cadherinaa 722–813UCSCCadherin domain

Cadherinaa 827–918UCSCCadherin domain

Cadherinaa 932–1023UCSCCadherin domain

Cadherinaa 1039–1130UCSCCadherin domain

Gene Aliases

HGNC Name

FAT atypical cadherin 1

HGNC Alias Symbols

CDHF7; CDHR8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005245.4

p.P460S

c.1378C>T

Surrounding Variants

1 paper

NM_005245.4

p.P460L

c.1379C>T

2 papers

NM_005245.4

p.S458N

c.1373G>A

1 paper

NM_005245.4

p.N457_E462del6

c.1369_1385del18

1 paper

NM_005245.4

p.T464N

c.1391C>A

1 paper

NM_005245.4

p.Q465_T466insT

c.1393_1397ins3

1 paper

NM_005245.4

p.A467S

c.1399G>T

1 paper

NM_005245.4

p.V453I

c.1357G>A

1 paper

NM_005245.4

p.Y468H

c.1402T>C

1 paper

NM_005245.4

p.K452E

c.1354A>G

1 paper

NM_005245.4

p.V451fs

c.1351_1352fs

1 paper

NM_005245.4

p.A470A

c.1410T>A

1 paper

NM_005245.4

p.A470_E474del0

c.1410_1421del12