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

2 papers

NM_001277115.2

p.L1215P

c.3644T>C

Surrounding Variants

3 papers

NM_001277115.2

p.Q1210Q

c.3630G>A

1 paper

NM_001277115.2

p.E1195K

c.3583G>A

7 papers

NM_001277115.2

p.R1182*

c.3544C>T

1 paper

NM_001277115.2

p.S1181I

c.3542G>T

2 papers

NM_001277115.2

p.S1181G

c.3541A>G

2 papers

NM_001277115.2

p.R1180G

c.3538A>G

1 paper

NM_001277115.2

p.G1168S

c.3502G>A

1 paper

NM_001277115.2

p.D1167H

c.3499G>C

1 paper

NM_001277115.2

p.H1166L

c.3497A>T

1 paper

NM_001277115.2

p.D1165G

c.3494A>G

1 paper

NM_001277115.2

p.E1160Q

c.3478G>C

8 papers

NM_001277115.2

p.L1157R

c.3470T>G