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.S26F

c.77C>T

Surrounding Variants

1 paper

NM_001385161.1

p.R31C

c.91C>T

4 papers

NM_001385161.1

p.R31H

c.92G>A

1 paper

NM_001385161.1

p.G33R

c.97G>C

1 paper

NM_001385161.1

p.V34I

c.100G>A

5 papers

NM_001385161.1

p.H39R

c.116A>G

1 paper

NM_001385161.1

p.V41A

c.122T>C

1 paper

NM_001385161.1

p.S46L

c.137C>T

1 paper

NM_001385161.1

p.D51A

c.152A>C

1 paper

NM_001385161.1

p.D51E

c.153C>G

1 paper

NM_001385161.1

p.S52L

c.155C>T

1 paper

NM_001385161.1

p.I55M

c.165C>G

1 paper

NM_001385161.1

p.Q64_K65insT

c.190_194ins3