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

11 papers

NM_000038.6

p.R2673G

c.8017A>G

Surrounding Variants

1 paper

NM_000038.6

p.G2672G

c.8016A>G

1 paper

NM_000038.6

p.R2673K

c.8018G>A

3 papers

NM_000038.6

p.G2672R

c.8014G>A

1 paper

NM_000038.6

p.G2672R

c.8014G>C

1 paper

NM_000038.6

p.G2672*

c.8014G>T

1 paper

NM_000038.6

p.R2673_E2688delFs

c.8018_8064del47

2 papers

NM_000038.6

p.S2674F

c.8021C>T

2 papers

NM_000038.6

p.S2674delFs

c.8022delT

1 paper

NM_000038.6

p.S2671S

c.8013T>C

1 paper

NM_000038.6

p.S2671F

c.8012C>T

1 paper

NM_000038.6

p.P2675S

c.8023C>T

1 paper

NM_000038.6

p.R2670K

c.8009G>A