Varaico: Literature-Extracted Genetic Variants

DNAH7

323 papers

RefSeq Summary

DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008].

Pfam Domains

DHC_N2aa 756–1162UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1290–1616UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 1782–1931UCSCDynein heavy chain AAA lid domain

AAA_7aa 1937–2118UCSCP-loop containing dynein motor region

AAA_lid_1aa 2152–2251UCSCAAA+ lid domain

AAA_8aa 2311–2573UCSCP-loop containing dynein motor region D4

Gene Aliases

HGNC Name

dynein axonemal heavy chain 7

HGNC Alias Symbol

KIAA0944

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018897.3

p.A154V

c.461C>T

Surrounding Variants

1 paper

NM_018897.3

p.T153T

c.459C>T

1 paper

NM_018897.3

p.P152L

c.455C>T

2 papers

NM_018897.3

p.I157V

c.469A>G

4 papers

NM_018897.3

p.K159E

c.475A>G

1 paper

NM_018897.3

p.Y164H

c.490T>C

1 paper

NM_018897.3

p.G171R

c.511G>C

1 paper

NM_018897.3

p.G171R

c.511G>A

1 paper

NM_018897.3

p.G171V

c.512G>T

1 paper

NM_018897.3

p.I172F

c.514A>T

1 paper

NM_018897.3

p.E186Q

c.556G>C

1 paper

NM_018897.3

p.V188I

c.562G>A

1 paper

NM_018897.3

p.D201Y

c.601G>T