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

3 papers

NM_000038.6

p.R1336*

c.4006A>T

Surrounding Variants

1 paper

NM_000038.6

p.S1335_R1336insFs

c.4005_4006insT

1 paper

NM_000038.6

p.R1336K

c.4007G>A

3 papers

NM_000038.6

p.R1336T

c.4007G>C

1 paper

NM_000038.6

p.R1336I

c.4007G>T

2 papers

NM_000038.6

p.S1335N

c.4004G>A

1 paper

NM_000038.6

p.S1335insFs

c.4003_4004ins7

1 paper

NM_000038.6

p.S1335fs

c.4003_4004fs

1 paper

NM_000038.6

p.S1335C

c.4003A>T

1 paper

NM_000038.6

p.S1335fs

c.4003_4004fs

2 papers

NM_000038.6

p.L1337fs

c.4009_4010fs

1 paper

NM_000038.6

p.L1337delFs

c.4010_4011delTG

1 paper

NM_000038.6

p.L1337fs

c.4009_4010fs