Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.K287N

ASL

224 papers

RefSeq Summary

This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and f...

Pfam Domains

Lyase_1aa 11–305UCSCLyase
ASL_C2aa 367–435UCSCArgininosuccinate lyase C-terminal

Gene Aliases

HGNC Name

argininosuccinate lyase

HGNC Alias Symbol

ASAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000048.4
p.K287N
c.861G>C
Surrounding Variants
1 paper
NM_000048.4
p.K287N
c.861G>T
38 papers
NM_000048.4
p.Q286R
c.857A>G
2 papers
NM_000048.4
p.M284_P285delFs
c.851_854del4
2 papers
NM_000048.4
p.G280R
c.838G>A
2 papers
NM_000048.4
p.G280R
c.838G>C
2 papers
NM_000048.4
p.G280fs
c.838_839fs
1 paper
NM_000048.4
p.L295P
c.884T>C
3 papers
NM_000048.4
p.G280delFs
c.839delG
3 papers
NM_000048.4
p.R297W
c.889C>T
1 paper
NM_000048.4
p.S278Splc
c.834-1G>A
2 papers
NM_000048.4
p.R297Q
c.890G>A
4 papers
NM_000048.4
p.G301R
c.901G>A
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