Varaico: Literature-Extracted Genetic Variants

MAT1A

193 papers

RefSeq Summary

This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi a...

Pfam Domains

S-AdoMet_synt_Naa 17–115UCSCS-adenosylmethionine synthetase, N-terminal domain

S-AdoMet_synt_Maa 129–250UCSCS-adenosylmethionine synthetase, central domain

S-AdoMet_synt_Caa 252–389UCSCS-adenosylmethionine synthetase, C-terminal domain

Gene Aliases

HGNC Name

methionine adenosyltransferase 1A

HGNC Alias Symbols

SAMS; MATA1; SAMS1; MAT-I/III

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_000429.3

p.Y92H

c.274T>C

Surrounding Variants

1 paper

NM_000429.3

p.G91A

c.272G>C

3 papers

NM_000429.3

p.Y92*

c.276C>G

3 papers

NM_000429.3

p.Y92*

c.276C>A

1 paper

NM_000429.3

p.G91R

c.271G>C

4 papers

NM_000429.3

p.G91S

c.271G>A

2 papers

NM_000429.3

p.K97N

c.291G>C

1 paper

NM_000429.3

p.Q80_T86del0

c.239_256del18

1 paper

NM_000429.3

p.G98R

c.292G>C

4 papers

NM_000429.3

p.G98S

c.292G>A

1 paper

NM_000429.3

p.R84T

c.251G>C

1 paper

NM_000429.3

p.G98Splc

c.292+5G>A

2 papers

NM_000429.3

p.R81Q

c.242G>A