Varaico: Literature-Extracted Genetic Variants

HHLA2

35 papers

RefSeq Summary

This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the pro...

Pfam Domains

V-setaa 36–139UCSCImmunoglobulin V-set domain

C1-setaa 140–217UCSCImmunoglobulin C1-set domain

V-setaa 226–336UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

HHLA2 member of B7 family

HGNC Alias Symbols

B7H7; B7-H5; B7y; B7-H7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001282556.2

p.N280K

c.840T>G

Surrounding Variants

1 paper

NM_001282556.2

p.N280K

c.840T>A

1 paper

NM_001282556.2

p.W290*

c.869G>A

1 paper

NM_001282556.2

p.W290*

c.870G>A

1 paper

NM_001282556.2

p.E293K

c.877G>A

1 paper

NM_001282556.2

p.L294_I295del2

c.880_884del6

1 paper

NM_001282556.2

p.M263I

c.789G>A

1 paper

NM_001282556.2

p.M263I

c.789G>C

1 paper

NM_001282556.2

p.M263I

c.789G>T

1 paper

NM_001282556.2

p.F300L

c.900C>A

1 paper

NM_001282556.2

p.S301F

c.902C>T

1 paper

NM_001282556.2

p.D255V

c.764A>T

1 paper

NM_001282556.2

p.D255Y

c.763G>T