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.A479V

c.1436C>T

Surrounding Variants

1 paper

NM_015261.3

p.L472Q

c.1415T>A

1 paper

NM_015261.3

p.C471S

c.1412G>C

1 paper

NM_015261.3

p.C471S

c.1411T>A

1 paper

NM_015261.3

p.F468Y

c.1403T>A

1 paper

NM_015261.3

p.S490Splc

c.1468+2T>C

1 paper

NM_015261.3

p.P423delFs

c.1267delG

1 paper

NM_015261.3

p.Y370C

c.1109A>G

1 paper

NM_015261.3

p.V365G

c.1094T>G

1 paper

NM_015261.3

p.P491fs

c.1471_1472fs

1 paper

NM_015261.3

p.F493delFs

c.1477delA

1 paper

NM_015261.3

p.A509Splc

c.1526-4A>T

1 paper

NM_015261.3

p.E521K

c.1561G>A