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

1 paper

NM_005581.5

p.R583W

c.1747C>T

Surrounding Variants

1 paper

NM_005581.5

p.R582Q

c.1745G>A

3 papers

NM_005581.5

p.R582W

c.1744C>T

4 papers

NM_005581.5

p.Q581L

c.1742A>T

1 paper

NM_005581.5

p.R580C

c.1738C>T

1 paper

NM_005581.5

p.G586A

c.1757G>C

1 paper

NM_005581.5

p.R573H

c.1718G>A

2 papers

NM_005581.5

p.R573C

c.1717C>T

1 paper

NM_005581.5

p.V571V

c.1713G>A

2 papers

NM_005581.5

p.V565I

c.1693G>A

1 paper

NM_005581.5

p.V564I

c.1690G>A

1 paper

NM_005581.5

p.L562I

c.1684C>A

3 papers

NM_005581.5

p.L562F

c.1684C>T