Varaico: Literature-Extracted Genetic Variants

NCAPD3

102 papers

RefSeq Summary

Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605...

Pfam Domains

NCAPD3_Naa 23–227UCSCCondensin-2 complex subunit D3-like, N-terminal domain

HEAT_NCAPD3aa 850–949UCSCCondensin-2 complex subunit D3-like. HEAT repeats

Cnd1aa 956–1132UCSCnon-SMC mitotic condensation complex subunit 1

HEAT_NCAPD3_2aa 1152–1268UCSCCondensin-2 complex subunit D3-like. HEAT repeats

Gene Aliases

HGNC Name

non-SMC condensin II complex subunit D3

HGNC Alias Symbols

hCAP-D3; CAP-D3; hHCP-6; KIAA0056; FLJ42888; hcp-6

Papers

RefSeq ID

Protein change

DNA change

1–12 of 112 variants

5 papers

NM_015261.3

p.D661Y

c.1981G>T

2 papers

NM_015261.3

p.E48G

c.143A>G

2 papers

NM_015261.3

p.I838V

c.2512A>G

2 papers

NM_015261.3

p.S881F

c.2642C>T

2 papers

NM_015261.3

p.A1041V

c.3122C>T

2 papers

NM_015261.3

p.P1163L

c.3488C>T

2 papers

NM_015261.3

p.P1342S

c.4024C>T

2 papers

NM_015261.3

p.P1463Splc

c.4389-4C>G

1 paper

NM_015261.3

p.M1I

c.3G>A

1 paper

NM_015261.3

p.L17insFs

c.50dupT

1 paper

NM_015261.3

p.L21F

c.61C>T

1 paper

NM_015261.3

p.W23C

c.69G>T