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

1–12 of 631 variants

5 papers

NM_018897.3

p.R121*

c.361C>T

5 papers

NM_018897.3

p.Y2054C

c.6161A>G

5 papers

NM_018897.3

p.Y3978*

c.11934T>G

5 papers

NM_018897.3

p.Y3978*

c.11934T>A

4 papers

NM_018897.3

p.K159E

c.475A>G

4 papers

NM_018897.3

p.R246C

c.736C>T

4 papers

NM_018897.3

p.L3319P

c.9956T>C

4 papers

NM_018897.3

p.Y3907C

c.11720A>G

4 papers

NM_018897.3

p.R3983W

c.11947C>T

3 papers

NM_018897.3

p.M1insFs

c.2_3insT

3 papers

NM_018897.3

p.K329fs

c.985_986fs

3 papers

NM_018897.3

p.M380R

c.1139T>G