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

3 papers

NM_018897.3

p.K329fs

c.985_986fs

Surrounding Variants

2 papers

NM_018897.3

p.K329_M330delFs

c.985_989del5

1 paper

NM_018897.3

p.E325V

c.974A>T

1 paper

NM_018897.3

p.I315V

c.943A>G

1 paper

NM_018897.3

p.I297V

c.889A>G

1 paper

NM_018897.3

p.K290Splc

c.869+49G>T

1 paper

NM_018897.3

p.L282_D283ins4

c.844_848ins12

1 paper

NM_018897.3

p.A280T

c.838G>A

1 paper

NM_018897.3

p.W256*

c.768G>A

1 paper

NM_018897.3

p.W256*

c.767G>A

1 paper

NM_018897.3

p.P255H

c.764C>A

1 paper

NM_018897.3

p.E248Splc

c.744-23C>T