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.K1459_V1460Splc

c.4377+15A>G

Surrounding Variants

1 paper

NM_001277115.2

p.L1455P

c.4364T>C

1 paper

NM_001277115.2

p.E1454delins

c.4360_4361delinsTT

11 papers

NM_001277115.2

p.R1445*

c.4333C>T

1 paper

NM_001277115.2

p.D1442delFs

c.4325_4326delAT

1 paper

NM_001277115.2

p.L1437S

c.4310T>C

1 paper

NM_001277115.2

p.R1436Q

c.4307G>A

6 papers

NM_001277115.2

p.R1436W

c.4306C>T

1 paper

NM_001277115.2

p.T1428A

c.4282A>G

1 paper

NM_001277115.2

p.T1427I

c.4280C>T

1 paper

NM_001277115.2

p.N1424S

c.4271A>G

1 paper

NM_001277115.2

p.G1418_V1419Splc

c.4255-1G>A

2 papers

NM_001277115.2

p.G1418_V1419Splc

c.4255-5A>G