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.L841fs

c.2521_2522fs

Surrounding Variants

2 papers

NM_000038.6

p.L841V

c.2521T>G

3 papers

NM_000038.6

p.L841delFs

c.2522delT

3 papers

NM_000038.6

p.L841*

c.2522T>A

3 papers

NM_000038.6

p.L841*

c.2522T>G

2 papers

NM_000038.6

p.L841insFs

c.2523dupA

1 paper

NM_000038.6

p.L841delFs

c.2523delA

2 papers

NM_000038.6

p.S840N

c.2519G>A

2 papers

NM_000038.6

p.L841_D842insFs

c.2523_2524ins4

2 papers

NM_000038.6

p.D842N

c.2524G>A

1 paper

NM_000038.6

p.D842insFs

c.2524_2525insA

3 papers

NM_000038.6

p.D842Y

c.2524G>T

1 paper

NM_000038.6

p.D842fs

c.2524_2525fs