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

2 papers

NM_018897.3

p.T3307S

c.9920C>G

Surrounding Variants

2 papers

NM_018897.3

p.T3307S

c.9919A>T

1 paper

NM_018897.3

p.G3311V

c.9932G>T

1 paper

NM_018897.3

p.L3312V

c.9934C>G

1 paper

NM_018897.3

p.D3313H

c.9937G>C

4 papers

NM_018897.3

p.L3319P

c.9956T>C

1 paper

NM_018897.3

p.L3319delFs

c.9955_9956delAG

1 paper

NM_018897.3

p.S3327F

c.9980C>T

1 paper

NM_018897.3

p.D3329N

c.9985G>A

1 paper

NM_018897.3

p.D3335N

c.10003G>A

1 paper

NM_018897.3

p.R3349C

c.10045C>T

1 paper

NM_018897.3

p.L3361M

c.10081T>A

1 paper

NM_018897.3

p.A3296_I3297Splc

c.9888+2T>A