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

4 papers

NM_001605.3

p.I699T

c.2096T>C

Surrounding Variants

1 paper

NM_001605.3

p.S698F

c.2093C>T

1 paper

NM_001605.3

p.P702P

c.2106G>T

1 paper

NM_001605.3

p.R695*

c.2083C>T

1 paper

NM_001605.3

p.V694M

c.2080G>A

1 paper

NM_001605.3

p.E705K

c.2113G>A

4 papers

NM_001605.3

p.T689insFs

c.2067dupC

7 papers

NM_001605.3

p.Y690fs

c.2068_2069fs

1 paper

NM_001605.3

p.P710L

c.2129C>T

13 papers

NM_001605.3

p.E688G

c.2063A>G

1 paper

NM_001605.3

p.V685M

c.2053G>A

1 paper

NM_001605.3

p.G681V

c.2042G>T

1 paper

NM_001605.3

p.A676A

c.2028G>C