Varaico: Literature-Extracted Genetic Variants

CD300A

19 papers

RefSeq Summary

This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a clus...

Pfam Domains

V-setaa 20–123UCSCImmunoglobulin V-set domain

SITaa 180–277UCSCSHP2-interacting transmembrane adaptor protein, SIT

Gene Aliases

HGNC Name

CD300a molecule

HGNC Alias Symbols

Irp60; CMRF35H; CMRF-35-H9; IRC1; IRC2; IGSF12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007261.4

p.G30R

c.88G>C

Surrounding Variants

1 paper

NM_007261.4

p.G30R

c.88G>A

2 papers

NM_007261.4

p.V28M

c.82G>A

1 paper

NM_007261.4

p.A25V

c.74C>T

1 paper

NM_007261.4

p.K40R

c.119A>G

1 paper

NM_007261.4

p.E41*

c.121G>T

1 paper

NM_007261.4

p.W49L

c.146G>T

1 paper

NM_007261.4

p.L84H

c.251T>A

1 paper

NM_007261.4

p.R111Q

c.332G>A

1 paper

NM_007261.4

p.P133H

c.398C>A

1 paper

NM_007261.4

p.S197C

c.590C>G

1 paper

NM_007261.4

p.L216M

c.646C>A

1 paper

NM_007261.4

p.T225T

c.675G>A