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.S2754G

c.8260A>G

Surrounding Variants

1 paper

NM_000038.6

p.S2754_S2755insA

c.8260_8264ins3

1 paper

NM_000038.6

p.I2756_S2765del0

c.8267_8293del27

3 papers

NM_000038.6

p.S2754N

c.8261G>A

1 paper

NM_000038.6

p.S2754I

c.8261G>T

1 paper

NM_000038.6

p.E2753*

c.8257G>T

1 paper

NM_000038.6

p.S2755P

c.8263T>C

3 papers

NM_000038.6

p.S2755Y

c.8264C>A

1 paper

NM_000038.6

p.S2755F

c.8264C>T

2 papers

NM_000038.6

p.N2752T

c.8255A>C

1 paper

NM_000038.6

p.N2752_E2753ins4

c.8254_8258ins12

9 papers

NM_000038.6

p.I2756V

c.8266A>G

1 paper

NM_000038.6

p.I2756T

c.8267T>C