Varaico: Literature-Extracted Genetic Variants

DNAH12

3p14.3 (UCSC)OMIM GTEx

111 papers

Pfam Domains

DHC_N2aa 676–1110UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1238–1564UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 1731–1866UCSCDynein heavy chain AAA lid domain

AAA_7aa 1873–2053UCSCP-loop containing dynein motor region

AAA_lid_1aa 2086–2183UCSCAAA+ lid domain

AAA_8aa 2246–2506UCSCP-loop containing dynein motor region D4

Gene Aliases

HGNC Name

dynein axonemal heavy chain 12

HGNC Previous Symbols

DNHD2; DNAH12L; DNAH7L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001366028.2

p.G93fs

c.277_278fs

Surrounding Variants

2 papers

NM_001366028.2

p.K92insFs

c.276dupA

4 papers

NM_001366028.2

p.G93fs

c.277_278fs

1 paper

NM_001366028.2

p.D80H

c.238G>C

1 paper

NM_001366028.2

p.K71*

c.211A>T

1 paper

NM_001366028.2

p.L69L

c.205C>T

1 paper

NM_001366028.2

p.D66Y

c.196G>T

1 paper

NM_001366028.2

p.A61G

c.182C>G