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.E98_I99delFs

c.294_295delGA

Surrounding Variants

1 paper

NM_001282556.2

p.A104V

c.311C>T

1 paper

NM_001282556.2

p.Q66E

c.196C>G

1 paper

NM_001282556.2

p.K64E

c.190A>G

1 paper

NM_001282556.2

p.V60I

c.178G>A

5 papers

NM_001282556.2

p.I30T

c.89T>C

1 paper

NM_001282556.2

p.I23L

c.67A>C

1 paper

NM_001282556.2

p.I23L

c.67A>T

1 paper

NM_001282556.2

p.V145M

c.433G>A

1 paper

NM_001282556.2

p.N152S

c.455A>G

1 paper

NM_001282556.2

p.L162_S163delFs

c.486_487delAA

1 paper

NM_001282556.2

p.S163fs

c.487_488fs

1 paper

NM_001282556.2

p.R167H

c.500G>A