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.T262I

c.785C>T

Surrounding Variants

1 paper

NM_015261.3

p.T250T

c.750T>A

1 paper

NM_015261.3

p.E234Q

c.700G>C

1 paper

NM_015261.3

p.N222S

c.665A>G

1 paper

NM_015261.3

p.N214insFs

c.642dupT

1 paper

NM_015261.3

p.L209F

c.625C>T

1 paper

NM_015261.3

p.G292insFs

c.874_875insA

1 paper

NM_015261.3

p.H176R

c.527A>G

1 paper

NM_015261.3

p.G174E

c.521G>A

1 paper

NM_015261.3

p.G174W

c.520G>T

1 paper

NM_015261.3

p.K163_E164del2

c.487_491del6

1 paper

NM_015261.3

p.S129fs

c.385_386fs

1 paper

NM_015261.3

p.G128D

c.383G>A