Varaico: Literature-Extracted Genetic Variants

DNAH3

152 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 859–1264UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1391–1717UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 1883–2028UCSCDynein heavy chain AAA lid domain

AAA_7aa 2035–2215UCSCP-loop containing dynein motor region

AAA_lid_1aa 2247–2346UCSCAAA+ lid domain

AAA_8aa 2404–2664UCSCP-loop containing dynein motor region D4

Gene Aliases

HGNC Name

dynein axonemal heavy chain 3

HGNC Alias Symbols

Dnahc3b; DLP3; Hsadhc3; DKFZp434N074

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001347886.2

p.L2597V

c.7789C>G

Surrounding Variants

1 paper

NM_001347886.2

p.K2588K

c.7764G>A

3 papers

NM_001347886.2

p.L2640R

c.7919T>G

1 paper

NM_001347886.2

p.T2542T

c.7626G>A

1 paper

NM_001347886.2

p.M2533I

c.7599G>T

1 paper

NM_001347886.2

p.M2533I

c.7599G>C

1 paper

NM_001347886.2

p.M2533I

c.7599G>A

1 paper

NM_001347886.2

p.Q2660R

c.7979A>G

1 paper

NM_001347886.2

p.N2513N

c.7539C>T

1 paper

NM_001347886.2

p.E2493K

c.7477G>A

1 paper

NM_017539.2

p.D2493N

c.7477G>A

1 paper

NM_001347886.2

p.E2408D

c.7224G>T

1 paper

NM_001347886.2

p.L2385V

c.7153C>G