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.N3852S

c.11555A>G

Surrounding Variants

1 paper

NM_018897.3

p.Y3841F

c.11522A>T

1 paper

NM_018897.3

p.L3813V

c.11437C>G

2 papers

NM_018897.3

p.F3880del1

c.11638_11639delGAA

1 paper

NM_018897.3

p.A3883D

c.11648C>A

4 papers

NM_018897.3

p.Y3907C

c.11720A>G

1 paper

NM_018897.3

p.E3908K

c.11722G>A

1 paper

NM_018897.3

p.V3909L

c.11725G>T

1 paper

NM_018897.3

p.V3909L

c.11725G>C

1 paper

NM_018897.3

p.Y3915F

c.11744A>T