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.F2939L

c.8815T>C

Surrounding Variants

1 paper

NM_001277115.2

p.F2939L

c.8817C>A

1 paper

NM_001277115.2

p.F2939L

c.8817C>G

1 paper

NM_001277115.2

p.D2937N

c.8809G>A

1 paper

NM_001277115.2

p.D2937Y

c.8809G>T

4 papers

NM_001277115.2

p.G2933Splc

c.8798-5G>A

3 papers

NM_001277115.2

p.S2963Y

c.8888C>A

1 paper

NM_001277115.2

p.W2968*

c.8903G>A

1 paper

NM_001277115.2

p.W2968*

c.8904G>A

1 paper

NM_001277115.2

p.R2974G

c.8920A>G

2 papers

NM_001277115.2

p.Q2978*

c.8932C>T

1 paper

NM_001277115.2

p.G2933Splc

c.8797+23T>C

1 paper

NM_001277115.2

p.E2920K

c.8758G>A