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.R2068H

c.6203G>A

Surrounding Variants

1 paper

NM_001277115.2

p.K2071R

c.6212A>G

1 paper

NM_001277115.2

p.H2062R

c.6185A>G

2 papers

NM_001277115.2

p.V2076M

c.6226G>A

2 papers

NM_001277115.2

p.K2081_R2082del2

c.6241_6245del6

10 papers

NM_001277115.2

p.R2082*

c.6244C>T

1 paper

NM_001277115.2

p.E2089K

c.6265G>A

1 paper

NM_001277115.2

p.E2089*

c.6265G>T

2 papers

NM_001277115.2

p.Q2091_V2092Splc

c.6273+1G>T

1 paper

NM_001277115.2

p.Q2091_V2092Splc

c.6273+12C>G

1 paper

NM_001277115.2

p.R2095I

c.6284G>T

1 paper

NM_001277115.2

p.L2114_P2122del0

c.6341_6364del24

1 paper

NM_001277115.2

p.D2119G

c.6356A>G