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.A772delFs

c.2314delG

Surrounding Variants

1 paper

NM_005883.3

p.H763Y

c.2287C>T

1 paper

NM_005883.3

p.R762*

c.2284C>T

1 paper

NM_005883.3

p.P760S

c.2278C>T

1 paper

NM_005883.3

p.P759L

c.2276C>T

1 paper

NM_005883.3

p.T793P

c.2377A>C

1 paper

NM_005883.3

p.P748A

c.2242C>G

1 paper

NM_005883.3

p.F805F

c.2415C>T

1 paper

NM_005883.3

p.S808I

c.2423G>T

1 paper

NM_005883.3

p.D731G

c.2192A>G

1 paper

NM_005883.3

p.E729G

c.2186A>G

1 paper

NM_005883.3

p.A708T

c.2122G>A

1 paper

NM_005883.3

p.R698W

c.2092C>T