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

1–12 of 49 variants

5 papers

NM_001385161.1

p.H39R

c.116A>G

4 papers

NM_001385161.1

p.R31H

c.92G>A

3 papers

NM_001385161.1

p.R101H

c.302G>A

2 papers

NM_001385161.1

p.M1I

c.3G>A

2 papers

NM_001385161.1

p.P203S

c.607C>T

2 papers

NM_001385161.1

p.C283S

c.847T>A

2 papers

NM_001385161.1

p.C283S

c.848G>C

1 paper

NM_001385161.1

p.M1I

c.3G>T

1 paper

NM_001385161.1

p.I12V

c.34A>G

1 paper

NM_001385161.1

p.S22insFs

c.64_65insT

1 paper

NM_001385161.1

p.S26F

c.77C>T

1 paper

NM_001385161.1

p.R31C

c.91C>T