Varaico: Literature-Extracted Genetic Variants

DNAH6

317 papers

RefSeq Summary

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, interme...

Pfam Domains

DHC_N2aa 879–1299UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1434–1760UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 1928–2052UCSCDynein heavy chain AAA lid domain

AAA_7aa 2057–2238UCSCP-loop containing dynein motor region

AAA_lid_1aa 2269–2367UCSCAAA+ lid domain

AAA_8aa 2417–2677UCSCP-loop containing dynein motor region D4

Gene Aliases

HGNC Name

dynein axonemal heavy chain 6

HGNC Previous Symbol

DNHL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001370.2

p.D2299N

c.6895G>A

Surrounding Variants

1 paper

NM_001370.2

p.H2292L

c.6875A>T

1 paper

NM_001370.2

p.T2287P

c.6859A>C

1 paper

NM_001370.2

p.P2286S

c.6856C>T

1 paper

NM_001370.2

p.P2286_T2287del2

c.6856_6860del6

1 paper

NM_001370.2

p.S2273T

c.6817T>A

1 paper

NM_001370.2

p.E2271K

c.6811G>A

1 paper

NM_001370.2

p.A2266T

c.6796G>A

1 paper

NM_001370.2

p.S2256G

c.6766A>G

1 paper

NM_001370.2

p.H2327R

c.6980A>G

1 paper

NM_001370.2

p.N2355S

c.7064A>G

1 paper

NM_001370.2

p.I2246V

c.6736A>G

1 paper

NM_001370.2

p.Q2245*

c.6733C>T