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.N2618_E2619del1

c.7854_7856delTGA

Surrounding Variants

1 paper

NM_000038.6

p.N2618S

c.7853A>G

1 paper

NM_000038.6

p.E2617*

c.7849G>T

1 paper

NM_000038.6

p.E2619*

c.7855G>T

1 paper

NM_000038.6

p.N2618_E2619del2

c.7852_7856del6

2 papers

NM_000038.6

p.F2620I

c.7858T>A

1 paper

NM_000038.6

p.I2615K

c.7844T>A

1 paper

NM_000038.6

p.I2615V

c.7843A>G

39 papers

NM_000038.6

p.S2621C

c.7862C>G

3 papers

NM_000038.6

p.S2621F

c.7862C>T

1 paper

NM_000038.6

p.K2614E

c.7840A>G

1 paper

NM_000038.6

p.P2622T

c.7864C>A

3 papers

NM_000038.6

p.P2622L

c.7865C>T