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.D2068G

c.6203A>G

Surrounding Variants

5 papers

NM_018897.3

p.Y2054C

c.6161A>G

1 paper

NM_018897.3

p.R2051W

c.6151C>T

1 paper

NM_018897.3

p.Q2087E

c.6259C>G

1 paper

NM_018897.3

p.N2047S

c.6140A>G

1 paper

NM_018897.3

p.M2020I

c.6060G>T

1 paper

NM_018897.3

p.M2020I

c.6060G>C

1 paper

NM_018897.3

p.M2020I

c.6060G>A

1 paper

NM_018897.3

p.M2020T

c.6059T>C

1 paper

NM_018897.3

p.I2018T

c.6053T>C

1 paper

NM_018897.3

p.Q2014E

c.6040C>G

1 paper

NM_018897.3

p.P2001S

c.6001C>T

1 paper

NM_018897.3

p.N1992K

c.5976T>G