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

6 papers

NM_000038.6

p.R1069G

c.3205A>G

Surrounding Variants

2 papers

NM_000038.6

p.R1069K

c.3206G>A

7 papers

NM_000038.6

p.S1068*

c.3203C>A

6 papers

NM_000038.6

p.S1068*

c.3203C>G

1 paper

NM_000038.6

p.S1068_R1069delFs

c.3204_3205delAA

1 paper

NM_000038.6

p.R1069R

c.3207G>A

1 paper

NM_000038.6

p.R1069S

c.3207G>T

1 paper

NM_000038.6

p.N1070_S1072delFs

c.3210_3214del5

8 papers

NM_000038.6

p.S1068fs

c.3202_3203fs

9 papers

NM_000038.6

p.S1068fs

c.3202_3203fs

1 paper

NM_000038.6

p.S1068_R1069delFs

c.3203_3206del4

1 paper

NM_000038.6

p.S1068insFs

c.3202dupT

1 paper

NM_000038.6

p.N1070I

c.3209A>T