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.E38D

c.114G>T

Surrounding Variants

1 paper

NM_001277115.2

p.E38D

c.114G>C

1 paper

NM_001277115.2

p.N41_R49delFs

c.122_147del26

1 paper

NM_001277115.2

p.E39V

c.116A>T

1 paper

NM_001277115.2

p.E39D

c.117G>C

1 paper

NM_001277115.2

p.E39D

c.117G>T

1 paper

NM_001277115.2

p.E36D

c.108G>C

1 paper

NM_001277115.2

p.E36D

c.108G>T

1 paper

NM_001277115.2

p.E37_N41del0

c.109_123del15

1 paper

NM_001277115.2

p.L35L

c.105C>G

3 papers

NM_001277115.2

p.E40del1

c.118_119delGAG

1 paper

NM_001277115.2

p.E42Q

c.124G>C

1 paper

NM_001277115.2

p.E42V

c.125A>T