Varaico: Literature-Extracted Genetic Variants

APC2

218 papers

RefSeq Summary

This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the as...

Pfam Domains

APC_N_CCaa 6–57UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 124–205UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 357–431UCSCAdenomatous polyposis coli (APC) repeat

Armaa 614–654UCSCArmadillo/beta-catenin-like repeat

Arm_APC_u3aa 697–959UCSCArmadillo-associated region on APC

APC_raa 1054–1076UCSCAPC repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway 2

HGNC Alias Symbol

APCL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005883.3

p.M431I

c.1293G>C

Surrounding Variants

1 paper

NM_005883.3

p.M431I

c.1293G>A

1 paper

NM_005883.3

p.M431I

c.1293G>T

3 papers

NM_005883.3

p.R428H

c.1283G>A

1 paper

NM_005883.3

p.A403Splc

c.1207+3G>C

1 paper

NM_005883.3

p.E396insFs

c.1187_1188insGG

1 paper

NM_005883.3

p.D392fs

c.1174_1175fs

3 papers

NM_005883.3

p.D392fs

c.1174_1175fs

1 paper

NM_005883.3

p.R391Q

c.1172G>A

1 paper

NM_005883.3

p.R391P

c.1172G>C

1 paper

NM_005883.3

p.Q389_G394delFs

c.1167_1180del14

1 paper

NM_005883.3

p.D386N

c.1156G>A

1 paper

NM_005883.3

p.E382K

c.1144G>A