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.R4395L

c.13184G>T

Surrounding Variants

11 papers

NM_001277115.2

p.R4395*

c.13183C>T

2 papers

NM_001277115.2

p.R4395_E4398del4

c.13183_13193del12

1 paper

NM_001277115.2

p.A4394G

c.13181C>G

3 papers

NM_001277115.2

p.T4392M

c.13175C>T

4 papers

NM_001277115.2

p.Q4391*

c.13171C>T

1 paper

NM_001277115.2

p.M4390fs

c.13168_13169fs

2 papers

NM_001277115.2

p.I4389_M4390insFs

c.13165_13168dup4

1 paper

NM_001277115.2

p.T4404M

c.13211C>T

1 paper

NM_001277115.2

p.R4405C

c.13213C>T

1 paper

NM_001277115.2

p.R4405fs

c.13213_13214fs

1 paper

NM_001277115.2

p.R4405P

c.13214G>C

1 paper

NM_001277115.2

p.A4388Splc

c.13163-19T>A