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

1 paper

NM_001277115.2

p.R644Q

c.1931G>A

Surrounding Variants

1 paper

NM_001277115.2

p.R644*

c.1930C>T

1 paper

NM_001277115.2

p.L642V

c.1924C>G

6 papers

NM_001277115.2

p.Q639R

c.1916A>G

8 papers

NM_001277115.2

p.Q639*

c.1915C>T

1 paper

NM_001277115.2

p.S650*

c.1949C>A

2 papers

NM_001277115.2

p.S650*

c.1949C>G

5 papers

NM_001277115.2

p.F652F

c.1956C>T

4 papers

NM_001277115.2

p.S654C

c.1961C>G

1 paper

NM_001277115.2

p.G633E

c.1898G>A

1 paper

NM_001277115.2

p.S632*

c.1895C>A

1 paper

NM_001277115.2

p.S632*

c.1895C>G

1 paper

NM_001277115.2

p.L658Splc

c.1973+1G>C