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.K345N

c.1035A>C

Surrounding Variants

1 paper

NM_018897.3

p.K345N

c.1035A>T

1 paper

NM_018897.3

p.K346fs

c.1036_1037fs

1 paper

NM_018897.3

p.K346insFs

c.1037dupA

1 paper

NM_018897.3

p.K346delFs

c.1037delT

1 paper

NM_018897.3

p.Q347fs

c.1039_1040fs

1 paper

NM_018897.3

p.Q341H

c.1023A>T

1 paper

NM_018897.3

p.Q341H

c.1023A>C

1 paper

NM_018897.3

p.Q341L

c.1022A>T

1 paper

NM_018897.3

p.I338S

c.1013T>G

1 paper

NM_018897.3

p.L357L

c.1069T>C

1 paper

NM_018897.3

p.S359T

c.1075T>A

1 paper

NM_018897.3

p.A364A

c.1092T>A