Varaico: Literature-Extracted Genetic Variants

BCAM

134 papers

RefSeq Summary

This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular im...

Pfam Domains

V-setaa 36–144UCSCImmunoglobulin V-set domain

C2-set_2aa 150–248UCSCCD80-like C2-set immunoglobulin domain

Ig_3aa 270–341UCSCImmunoglobulin domain

Ig_2aa 370–444UCSCImmunoglobulin domain

Ig_3aa 448–526UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

basal cell adhesion molecule

HGNC Previous Symbol

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005581.5

p.R532L

c.1595G>T

Surrounding Variants

1 paper

NM_005581.5

p.G529E

c.1586G>A

1 paper

NM_005581.5

p.G538S

c.1612G>A

1 paper

NM_005581.5

p.N526_P527ins7

c.1576_1580ins21

5 papers

NM_005581.5

p.T539A

c.1615A>G

2 papers

NM_005581.5

p.S525_N526ins7

c.1573_1577ins21

1 paper

NM_005581.5

p.V540M

c.1618G>A

1 paper

NM_005581.5

p.G519S

c.1555G>A

1 paper

NM_005581.5

p.D518N

c.1552G>A

1 paper

NM_005581.5

p.R517H

c.1550G>A

3 papers

NM_005581.5

p.R499W

c.1495C>T

1 paper

NM_005581.5

p.E494V

c.1481A>T

1 paper

NM_005581.5

p.V551I

c.1651G>A