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.Q1353H

c.4059A>T

Surrounding Variants

1 paper

NM_001366028.2

p.Q1353H

c.4059A>C

1 paper

NM_001366028.2

p.P1370L

c.4109C>T

1 paper

NM_001366028.2

p.N1379S

c.4136A>G

1 paper

NM_001366028.2

p.S1386C

c.4157C>G

2 papers

NM_001366028.2

p.P1389L

c.4166C>T

1 paper

NM_001366028.2

p.V1399A

c.4196T>C

1 paper

NM_001366028.2

p.I1409V

c.4225A>G

1 paper

NM_001366028.2

p.R1451*

c.4351C>T

1 paper

NM_001366028.2

p.L1457F

c.4371A>T

1 paper

NM_001366028.2

p.L1457F

c.4371A>C

1 paper

NM_001366028.2

p.N1484I

c.4451A>T

1 paper

NM_001366028.2

p.G1150R

c.3448G>C