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

8 papers

NM_001277115.2

p.V3708L

c.11122G>T

Surrounding Variants

8 papers

NM_001277115.2

p.V3708L

c.11122G>C

1 paper

NM_001277115.2

p.C3704R

c.11110T>C

2 papers

NM_001277115.2

p.R3702Q

c.11105G>A

3 papers

NM_001277115.2

p.R3702*

c.11104C>T

1 paper

NM_001277115.2

p.L3715V

c.11143C>G

1 paper

NM_001277115.2

p.E3700Q

c.11098G>C

1 paper

NM_001277115.2

p.I3725insFs

c.11173dupA

1 paper

NM_001277115.2

p.I3725fs

c.11173_11174fs

1 paper

NM_001277115.2

p.N3726I

c.11177A>T

1 paper

NM_001277115.2

p.P3727T

c.11179C>A

1 paper

NM_001277115.2

p.K3734Q

c.11200A>C

1 paper

NM_001277115.2

p.K3734_A3735Splc

c.11202+7C>A