Varaico: Literature-Extracted Genetic Variants

APC

6,282 papers

RefSeq Summary

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional acti...

Pfam Domains

APC_N_CCaa 4–55UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 131–207UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 393–466UCSCAdenomatous polyposis coli (APC) repeat

Armaa 512–553UCSCArmadillo/beta-catenin-like repeat

Armaa 649–689UCSCArmadillo/beta-catenin-like repeat

Armaa 691–731UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway

HGNC Alias Symbols

DP2; DP3; DP2.5; PPP1R46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000038.6

p.H1490L

c.4469A>T

Surrounding Variants

13 papers

NM_000038.6

p.F1491insFs

c.4473dupT

1 paper

NM_000038.6

p.H1490R

c.4469A>G

14 papers

NM_000038.6

p.F1491delFs

c.4473delT

1 paper

NM_000038.6

p.H1490_T1493delFs

c.4470_4479del10

1 paper

NM_000038.6

p.H1490insFs

c.4469_4470insA

16 papers

NM_000038.6

p.H1490fs

c.4468_4469fs

2 papers

NM_000038.6

p.H1490_F1491insT

c.4468_4472ins3

4 papers

NM_000038.6

p.H1490Y

c.4468C>T

2 papers

NM_000038.6

p.H1490delFs

c.4469delA

4 papers

NM_000038.6

p.H1490fs

c.4468_4469fs

1 paper

NM_000038.6

p.A1492_S1501delFs

c.4474_4501del28

1 paper

NM_000038.6

p.L1489_H1490insFs

c.4467_4468ins7