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

2 papers

NM_001282556.2

p.S364R

c.1090A>C

Surrounding Variants

2 papers

NM_001282556.2

p.S364R

c.1092C>A

2 papers

NM_001282556.2

p.S364R

c.1092C>G

1 paper

NM_001282556.2

p.A370T

c.1108G>A

1 paper

NM_001282556.2

p.A354V

c.1061C>T

1 paper

NM_001282556.2

p.W348*

c.1044G>A

1 paper

NM_001282556.2

p.W348*

c.1043G>A

1 paper

NM_001282556.2

p.W348R

c.1042T>A

1 paper

NM_001282556.2

p.W348R

c.1042T>C

1 paper

NM_001282556.2

p.N344K

c.1032C>A

1 paper

NM_001282556.2

p.N344K

c.1032C>G

1 paper

NM_001282556.2

p.E323Q

c.967G>C

1 paper

NM_001282556.2

p.D311E

c.933C>A