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.E1157K

c.3469G>A

Surrounding Variants

1 paper

NM_000038.6

p.E1157Q

c.3469G>C

4 papers

NM_000038.6

p.E1157fs

c.3469_3470fs

3 papers

NM_000038.6

p.E1157*

c.3469G>T

1 paper

NM_000038.6

p.E1157fs

c.3469_3470fs

10 papers

NM_000038.6

p.E1157del1

c.3469_3470delGAG

2 papers

NM_000038.6

p.E1156G

c.3467A>G

5 papers

NM_000038.6

p.R1158delFs

c.3473_3474delGA

6 papers

NM_000038.6

p.E1157_R1158delFs

c.3471_3474del4

4 papers

NM_000038.6

p.E1157E

c.3471G>A

1 paper

NM_000038.6

p.R1158fs

c.3472_3473fs

4 papers

NM_000038.6

p.R1158*

c.3472A>T

3 papers

NM_000038.6

p.R1158fs

c.3472_3473fs