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.Q4H

c.12G>C

Surrounding Variants

1 paper

NM_001277115.2

p.Q4*

c.10C>T

1 paper

NM_001277115.2

p.A6insFs

c.16_17ins5

1 paper

NM_001277115.2

p.A3delFs

c.9delC

1 paper

NM_001277115.2

p.A6_A7Fs

c.18_19delinsAFs

2 papers

NM_001277115.2

p.A2G

c.5C>G

2 papers

NM_001277115.2

p.A7delins

c.19delinsA

3 papers

NM_001277115.2

p.A7insFs

c.21dupC

5 papers

NM_001277115.2

p.A2_A3insT

c.4_8ins3

1 paper

NM_001277115.2

p.M1I

c.3G>A

1 paper

NM_001277115.2

p.M1_A2insFs

c.3_4insA

2 papers

NM_001277115.2

p.M1_A2insFs

c.3_4insT

2 papers

NM_001277115.2

p.M1T

c.2T>C