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.L4019_C4020delFs

c.12056_12060del5

Surrounding Variants

1 paper

NM_018897.3

p.L4019fs

c.12055_12056fs

1 paper

NM_018897.3

p.N4023_S4024ins1

c.12069_12070insAAT

1 paper

NM_018897.3

p.R4014Q

c.12041G>A

2 papers

NM_018897.3

p.R4014R

c.12040C>A

1 paper

NM_018897.3

p.Q4006*

c.12016C>T

2 papers

NM_018897.3

p.R3983Q

c.11948G>A

4 papers

NM_018897.3

p.R3983W

c.11947C>T

5 papers

NM_018897.3

p.Y3978*

c.11934T>G

5 papers

NM_018897.3

p.Y3978*

c.11934T>A

1 paper

NM_018897.3

p.Y3973C

c.11918A>G

1 paper

NM_018897.3

p.P3971S

c.11911C>T

1 paper

NM_018897.3

p.R3964G

c.11890A>G