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

Selected Variant

2 papers

NM_015261.3

p.I838V

c.2512A>G

Surrounding Variants

1 paper

NM_015261.3

p.G825V

c.2474G>T

1 paper

NM_015261.3

p.R874_I875insA

c.2620_2624ins3

2 papers

NM_015261.3

p.S881F

c.2642C>T

1 paper

NM_015261.3

p.D890N

c.2668G>A

1 paper

NM_015261.3

p.P893L

c.2678C>T

1 paper

NM_015261.3

p.Q909delFs

c.2725delG

1 paper

NM_015261.3

p.Q909fs

c.2725_2726fs

1 paper

NM_015261.3

p.G912R

c.2734G>C

1 paper

NM_015261.3

p.S913F

c.2738C>T

1 paper

NM_015261.3

p.R807I

c.2420G>T

1 paper

NM_015261.3

p.K784*

c.2350A>T

1 paper

NM_015261.3

p.L930insFs

c.2789dupT