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.G615R

c.1843G>C

Surrounding Variants

1 paper

NM_005581.5

p.G615R

c.1843G>A

1 paper

NM_005581.5

p.S614F

c.1841C>T

1 paper

NM_005581.5

p.R618R

c.1854G>A

1 paper

NM_005581.5

p.L609R

c.1826T>G

1 paper

NM_005581.5

p.G622R

c.1864G>A

1 paper

NM_005581.5

p.G607S

c.1819G>A

2 papers

NM_005581.5

p.G625R

c.1873G>A

2 papers

NM_005581.5

p.G625R

c.1873G>C

1 paper

NM_005581.5

p.E604Q

c.1810G>C

2 papers

NM_005581.5

p.S600L

c.1799C>T

1 paper

NM_005581.5

p.S598W

c.1793C>G

1 paper

NM_005581.5

p.H597Y

c.1789C>T