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.S1298_A1299delFs

c.3894_3895delTG

Surrounding Variants

1 paper

NM_000038.6

p.S1298Y

c.3893C>A

3 papers

NM_000038.6

p.S1298insFs

c.3893_3894ins8

3 papers

NM_000038.6

p.S1298F

c.3893C>T

3 papers

NM_000038.6

p.S1298delFs

c.3894delT

2 papers

NM_000038.6

p.S1298fs

c.3892_3893fs

3 papers

NM_000038.6

p.S1298fs

c.3892_3893fs

2 papers

NM_000038.6

p.S1298_T1301Fs

c.3892_3903delinsATTTFs

2 papers

NM_000038.6

p.A1299T

c.3895G>A

7 papers

NM_000038.6

p.A1299P

c.3895G>C

2 papers

NM_000038.6

p.A1299fs

c.3895_3896fs

1 paper

NM_000038.6

p.A1299S

c.3895G>T

2 papers

NM_000038.6

p.D1297E

c.3891T>A