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

1–12 of 1437 variants

13 papers

NM_001277115.2

p.R2900*

c.8698C>T

11 papers

NM_001277115.2

p.R1445*

c.4333C>T

11 papers

NM_001277115.2

p.R4395*

c.13183C>T

10 papers

NM_001277115.2

p.R2082*

c.6244C>T

10 papers

NM_001277115.2

p.R2243*

c.6727C>T

9 papers

NM_001277115.2

p.M1insFs

c.2dupT

9 papers

NM_001277115.2

p.E34*

c.100G>T

8 papers

NM_001277115.2

p.Q639*

c.1915C>T

8 papers

NM_001277115.2

p.L1157R

c.3470T>G

8 papers

NM_001277115.2

p.P2907S

c.8719C>T

8 papers

NM_001277115.2

p.R3491H

c.10472G>A

8 papers

NM_001277115.2

p.V3708L

c.11122G>C