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.R2098C

c.6292C>T

Surrounding Variants

1 paper

NM_005883.3

p.R2109H

c.6326G>A

1 paper

NM_005883.3

p.T2077S

c.6230C>G

1 paper

NM_005883.3

p.T2077S

c.6229A>T

1 paper

NM_005883.3

p.P2137L

c.6410C>T

1 paper

NM_005883.3

p.A2057T

c.6169G>A

1 paper

NM_005883.3

p.P2056_R2058ins1

c.6167_6172dup6

1 paper

NM_005883.3

p.T2144M

c.6431C>T

1 paper

NM_005883.3

p.R2047G

c.6139C>G

1 paper

NM_005883.3

p.E2045G

c.6134A>G

1 paper

NM_005883.3

p.V2154M

c.6460G>A

1 paper

NM_005883.3

p.A2164D

c.6491C>A

1 paper

NM_005883.3

p.L2167M

c.6499C>A