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.S112*

c.335C>A

Surrounding Variants

1 paper

NM_018897.3

p.S112*

c.335C>G

1 paper

NM_018897.3

p.K113Q

c.337A>C

1 paper

NM_018897.3

p.S110P

c.328T>C

1 paper

NM_018897.3

p.P117Q

c.350C>A

5 papers

NM_018897.3

p.R121*

c.361C>T

1 paper

NM_018897.3

p.D101V

c.302A>T

1 paper

NM_018897.3

p.Q99E

c.295C>G

1 paper

NM_018897.3

p.P97T

c.289C>A

1 paper

NM_018897.3

p.G94_K95insFs

c.282_283ins4

1 paper

NM_018897.3

p.G91V

c.272G>T

1 paper

NM_018897.3

p.G91R

c.271G>C

1 paper

NM_018897.3

p.G91R

c.271G>A