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.T1415A

c.4243A>G

Surrounding Variants

1 paper

NM_015261.3

p.K1418*

c.4252A>T

1 paper

NM_015261.3

p.R1371Q

c.4112G>A

1 paper

NM_015261.3

p.R1369W

c.4105C>T

2 papers

NM_015261.3

p.P1342S

c.4024C>T

1 paper

NM_015261.3

p.V1299I

c.3895G>A

1 paper

NM_015261.3

p.M1231L

c.3691A>T

1 paper

NM_015261.3

p.M1231L

c.3691A>C

1 paper

NM_015261.3

p.K1418*

c.4252A>T

1 paper

NM_015261.3

p.E1443Splc

c.4328-1G>C

2 papers

NM_015261.3

p.P1463Splc

c.4389-4C>G

1 paper

NM_015261.3

p.R1490*

c.4468C>T

1 paper

NM_015261.3

p.*1499K

c.4495T>A