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.D2259Y

c.6775G>T

Surrounding Variants

1 paper

NM_001277115.2

p.D2259V

c.6776A>T

2 papers

NM_001277115.2

p.I2256V

c.6766A>G

2 papers

NM_001277115.2

p.I2262T

c.6785T>C

1 paper

NM_001277115.2

p.P2253Q

c.6758C>A

2 papers

NM_001277115.2

p.H2250Y

c.6748C>T

1 paper

NM_001277115.2

p.Q2245*

c.6733C>T

1 paper

NM_001277115.2

p.V2273I

c.6817G>A

1 paper

NM_001277115.2

p.V2273V

c.6819A>G

10 papers

NM_001277115.2

p.R2243*

c.6727C>T

1 paper

NM_001277115.2

p.L2242L

c.6726A>G

1 paper

NM_001277115.2

p.A2283delFs

c.6847delG

1 paper

NM_001277115.2

p.S2284R

c.6852C>G