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

1 paper

NM_015261.3

p.V628E

c.1883T>A

Surrounding Variants

1 paper

NM_015261.3

p.G623V

c.1868G>T

1 paper

NM_015261.3

p.L643L

c.1927C>T

1 paper

NM_015261.3

p.H658Y

c.1972C>T

5 papers

NM_015261.3

p.D661Y

c.1981G>T

1 paper

NM_015261.3

p.D662H

c.1984G>C

1 paper

NM_015261.3

p.L666V

c.1996C>G

1 paper

NM_015261.3

p.A669V

c.2006C>T

1 paper

NM_015261.3

p.V595fs

c.1783_1784fs

1 paper

NM_015261.3

p.H571P

c.1712A>C

1 paper

NM_015261.3

p.R551S

c.1653G>T

1 paper

NM_015261.3

p.R551S

c.1653G>C

1 paper

NM_015261.3

p.N751D

c.2251A>G