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

Selected Variant

1 paper

NM_152299.4

p.L540L

c.1618C>T

Surrounding Variants

1 paper

NM_152299.4

p.R551S

c.1651C>A

1 paper

NM_152299.4

p.V525A

c.1574T>C

1 paper

NM_152299.4

p.S556F

c.1667C>T

1 paper

NM_152299.4

p.P514S

c.1540C>T

1 paper

NM_152299.4

p.A460T

c.1378G>A

1 paper

NM_152299.4

p.E411_V412Splc

c.1233+2C>T

1 paper

NM_152299.4

p.R380W

c.1138C>T

1 paper

NM_152299.4

p.P341R

c.1022C>G

1 paper

NM_152299.4

p.P336S

c.1006C>T

1 paper

NM_152299.4

p.P322S

c.964C>T

1 paper

NM_152299.4

p.R298Q

c.893G>A

1 paper

NM_152299.4

p.Y295C

c.884A>G