Varaico: Literature-Extracted Genetic Variants

MR1

73 papers

RefSeq Summary

MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that pres...

Pfam Domains

MHC_Iaa 23–198UCSCClass I Histocompatibility antigen, domains alpha 1 and 2

C1-setaa 196–256UCSCImmunoglobulin C1-set domain

C1-setaa 206–285UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class I-related

HGNC Previous Symbol

HLALS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001385161.1

p.V318D

c.953T>A

Surrounding Variants

1 paper

NM_001385161.1

p.R328*

c.982C>T

1 paper

NM_001385161.1

p.V305I

c.913G>A

1 paper

NM_001385161.1

p.E296K

c.886G>A

2 papers

NM_001385161.1

p.C283S

c.848G>C

2 papers

NM_001385161.1

p.C283S

c.847T>A

1 paper

NM_001385161.1

p.H279Y

c.835C>T

1 paper

NM_001385161.1

p.Q271H

c.813G>C

1 paper

NM_001385161.1

p.Q271H

c.813G>T

1 paper

NM_001385161.1

p.E242D

c.726A>T

1 paper

NM_001385161.1

p.K211R

c.632A>G

2 papers

NM_001385161.1

p.P203S

c.607C>T

1 paper

NM_001385161.1

p.E202A

c.605A>C