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.E202A

c.605A>C

Surrounding Variants

1 paper

NM_001385161.1

p.T201fs

c.601_602fs

1 paper

NM_001385161.1

p.E192fs

c.574_575fs

1 paper

NM_001385161.1

p.L191delFs

c.573delG

1 paper

NM_001385161.1

p.K188N

c.564G>C

1 paper

NM_001385161.1

p.K188N

c.564G>T

1 paper

NM_001385161.1

p.I161M

c.483C>G

1 paper

NM_001385161.1

p.H159H

c.477C>T

1 paper

NM_001385161.1

p.Y114Y

c.342C>T

3 papers

NM_001385161.1

p.R101H

c.302G>A

1 paper

NM_001385161.1

p.V97M

c.289G>A

1 paper

NM_001385161.1

p.K96R

c.287A>G

1 paper

NM_001385161.1

p.F95delFs

c.284delT