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

1–12 of 290 variants

7 papers

NM_005883.3

p.G323R

c.967G>C

4 papers

NM_005883.3

p.A6V

c.17C>T

4 papers

NM_005883.3

p.Q361*

c.1081C>T

4 papers

NM_005883.3

p.R488H

c.1463G>A

4 papers

NM_005883.3

p.K1734fs

c.5200_5201fs

4 papers

NM_005883.3

p.G2003S

c.6007G>A

3 papers

NM_005883.3

p.S246*

c.737C>A

3 papers

NM_005883.3

p.D392fs

c.1174_1175fs

3 papers

NM_005883.3

p.R428H

c.1283G>A

3 papers

NM_005883.3

p.R487C

c.1459C>T

3 papers

NM_005883.3

p.T565fs

c.1693_1694fs

3 papers

NM_005883.3

p.R618Splc

c.1853+1G>C