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.T334I

c.1001C>T

Surrounding Variants

1 paper

NM_005581.5

p.G333R

c.997G>A

2 papers

NM_005581.5

p.G333R

c.997G>C

1 paper

NM_005581.5

p.S332R

c.994A>C

1 paper

NM_005581.5

p.R329W

c.985C>T

1 paper

NM_005581.5

p.Y342Y

c.1026C>T

1 paper

NM_005581.5

p.G326R

c.976G>A

1 paper

NM_005581.5

p.G326R

c.976G>C

1 paper

NM_005581.5

p.D343N

c.1027G>A

3 papers

NM_005581.5

p.E325K

c.973G>A

1 paper

NM_005581.5

p.L324P

c.971T>C

1 paper

NM_005581.5

p.V348M

c.1042G>A

1 paper

NM_005581.5

p.E319K

c.955G>A