Varaico: Literature-Extracted Genetic Variants

DNAH11

556 papers

RefSeq Summary

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement o...

Pfam Domains

DHC_N1aa 240–812UCSCDynein heavy chain, N-terminal region 1

DHC_N2aa 1316–1721UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1855–2181UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2346–2466UCSCDynein heavy chain AAA lid domain

AAA_7aa 2471–2649UCSCP-loop containing dynein motor region

AAA_lid_1aa 2682–2781UCSCAAA+ lid domain

Gene Aliases

HGNC Name

dynein axonemal heavy chain 11

HGNC Alias Symbols

Dnahc11; DPL11; CILD7; DNAHC11; DNAHBL; DNHBL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001277115.2

p.E4424*

c.13270G>T

Surrounding Variants

1 paper

NM_001277115.2

p.G4425_F4432insFs

c.13273_13294dup22

3 papers

NM_001277115.2

p.G4425S

c.13273G>A

1 paper

NM_001277115.2

p.H4420P

c.13259A>C

2 papers

NM_001277115.2

p.H4429_M4433delFs

c.13285_13298del14

2 papers

NM_001277115.2

p.H4429fs

c.13285_13286fs

2 papers

NM_001277115.2

p.H4429Y

c.13285C>T

4 papers

NM_001277115.2

p.G4430R

c.13288G>A

1 paper

NM_001277115.2

p.G4430R

c.13288G>C

1 paper

NM_001277115.2

p.Y4418insFs

c.13253dupA

2 papers

NM_001277115.2

p.G4430E

c.13289G>A

1 paper

NM_001277115.2

p.K4415Q

c.13243A>C

2 papers

NM_001277115.2

p.T4414_K4415delFs

c.13242_13245del4