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.F1053F

c.3159C>T

Surrounding Variants

2 papers

NM_015261.3

p.A1041V

c.3122C>T

1 paper

NM_015261.3

p.E1067K

c.3199G>A

1 paper

NM_015261.3

p.E1037*

c.3109G>T

1 paper

NM_015261.3

p.K1071N

c.3213G>T

1 paper

NM_015261.3

p.K1071N

c.3213G>C

1 paper

NM_015261.3

p.K1093*

c.3277A>T

1 paper

NM_015261.3

p.F1107C

c.3320T>G

1 paper

NM_015261.3

p.T1108I

c.3323C>T

1 paper

NM_015261.3

p.T1145M

c.3434C>T

1 paper

NM_015261.3

p.E1153A

c.3458A>C

2 papers

NM_015261.3

p.P1163L

c.3488C>T

1 paper

NM_015261.3

p.D1164H

c.3490G>C