Varaico: Literature-Extracted Genetic Variants

AARS1

221 papers

RefSeq Summary

The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected ...

Pfam Domains

tRNA-synt_2caa 9–597UCSCtRNA synthetases class II (A)

tRNA_SADaa 694–753UCSCThreonyl and Alanyl tRNA synthetase second additional domain

DHHA1aa 854–961UCSCDHHA1 domain

Gene Aliases

HGNC Name

alanyl-tRNA synthetase 1

HGNC Alias Symbols

CMT2N; AlaRS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

15 papers

NM_001605.3

p.E778A

c.2333A>C

Surrounding Variants

1 paper

NM_001605.3

p.S775delFs

c.2324_2325delAG

1 paper

NM_001605.3

p.S775fs

c.2323_2324fs

1 paper

NM_001605.3

p.A786fs

c.2356_2357fs

3 papers

NM_001605.3

p.A763fs

c.2287_2288fs

1 paper

NM_001605.3

p.E800E

c.2400G>A

1 paper

NM_001605.3

p.K812R

c.2435A>G

1 paper

NM_001605.3

p.K820R

c.2459A>G

1 paper

NM_001605.3

p.K824del1

c.2470_2471delCTT

1 paper

NM_001605.3

p.R840_V841Splc

c.2521-3C>T

5 papers

NM_001605.3

p.Q855R

c.2564A>G

1 paper

NM_001605.3

p.G865S

c.2593G>A

1 paper

NM_001605.3

p.K869delFs

c.2607delC