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.D1083H

c.3247G>C

Surrounding Variants

2 papers

NM_000038.6

p.D1083N

c.3247G>A

1 paper

NM_000038.6

p.D1083fs

c.3247_3248fs

1 paper

NM_000038.6

p.D1083insFs

c.3249dupT

3 papers

NM_000038.6

p.D1083delFs

c.3249delT

3 papers

NM_000038.6

p.D1083_L1087del5

c.3247_3260del15

6 papers

NM_000038.6

p.T1082S

c.3245C>G

1 paper

NM_000038.6

p.T1082I

c.3245C>T

8 papers

NM_000038.6

p.D1083E

c.3249T>A

10 papers

NM_000038.6

p.D1083E

c.3249T>G

1 paper

NM_000038.6

p.D1083_D1084insFs

c.3249_3250insTG

4 papers

NM_000038.6

p.T1082S

c.3244A>T

2 papers

NM_000038.6

p.D1084N

c.3250G>A