Varaico: Literature-Extracted Genetic Variants

DNAH1

366 papers

RefSeq Summary

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are ass...

Pfam Domains

DHC_N2aa 1013–1416UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1543–1869UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2037–2162UCSCDynein heavy chain AAA lid domain

AAA_7aa 2188–2369UCSCP-loop containing dynein motor region

AAA_lid_1aa 2412–2507UCSCAAA+ lid domain

AAA_8aa 2556–2817UCSCP-loop containing dynein motor region D4

Gene Aliases

HGNC Name

dynein axonemal heavy chain 1

HGNC Alias Symbols

XLHSRF-1; DNAHC1; HDHC7; HL-11; HL11

Papers

RefSeq ID

Protein change

DNA change

1–12 of 830 variants

19 papers

NM_015512.5

p.P3909delFs

c.11726_11727delCT

11 papers

NM_015512.5

p.D906G

c.2717A>G

10 papers

NM_015512.5

p.P3909fs

c.11725_11726fs

9 papers

NM_015512.5

p.K1279R

c.3836A>G

8 papers

NM_015512.5

p.K1154Q

c.3460A>C

8 papers

NM_015512.5

p.D1293N

c.3877G>A

7 papers

NM_015512.5

p.W870*

c.2610G>A

7 papers

NM_015512.5

p.R971H

c.2912G>A

7 papers

NM_015512.5

p.G1890V

c.5669G>T

7 papers

NM_015512.5

p.R2356W

c.7066C>T

7 papers

NM_015512.5

p.G3801D

c.11402G>A

7 papers

NM_015512.5

p.H3929_G3930Splc

c.11788-1G>A