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.A47del1

c.139_141delGCC

Surrounding Variants

1 paper

NM_001277115.2

p.A47D

c.140C>A

1 paper

NM_001277115.2

p.A47G

c.140C>G

1 paper

NM_001277115.2

p.R48_R49del1

c.143_145delGGA

1 paper

NM_001277115.2

p.R49T

c.146G>C

1 paper

NM_001277115.2

p.E44delFs

c.131delA

1 paper

NM_001277115.2

p.A50delFs

c.148delG

1 paper

NM_001277115.2

p.E43G

c.128A>G

1 paper

NM_001277115.2

p.E42V

c.125A>T

1 paper

NM_001277115.2

p.E42Q

c.124G>C

1 paper

NM_001277115.2

p.E39D

c.117G>C

1 paper

NM_001277115.2

p.E39D

c.117G>T

1 paper

NM_001277115.2

p.E39V

c.116A>T