Varaico: Literature-Extracted Genetic Variants

NCAPH2

34 papers

RefSeq Summary

This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple tran...

Pfam Domains

CNDH2_Naa 6–125UCSCCondensin II complex subunit CAP-H2 or CNDH2, N-terminal

CNDH2_Maa 147–288UCSCCondensin II complex subunit CAP-H2 or CNDH2, mid domain

CNDH2_Caa 466–594UCSCCondensin II complex subunit CAP-H2 or CNDH2, C-terminal wHTH domain

Gene Aliases

HGNC Name

non-SMC condensin II complex subunit H2

HGNC Alias Symbols

384D8-2; hCAP-H2; CAP-H2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 28 variants

3 papers

NM_152299.4

p.I15N

c.44T>A

3 papers

NM_152299.4

p.S282F

c.845C>T

1 paper

NM_152299.4

p.I40M

c.120C>G

1 paper

NM_152299.4

p.S63Y

c.188C>A

1 paper

NM_152299.4

p.R89Splc

c.266+2T>C

1 paper

NM_152299.4

p.E113*

c.337G>T

1 paper

NM_152299.4

p.E115G

c.344A>G

1 paper

NM_152299.4

p.E117_F118Splc

c.351+2T>G

1 paper

NM_152299.4

p.E117_F118Splc

c.351+27G>A

1 paper

NM_152299.4

p.R128L

c.383G>T

1 paper

NM_152299.4

p.Q169*

c.505C>T

1 paper

NM_152299.4

p.V185I

c.553G>A