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

2 papers

NM_005581.5

p.D232V

c.695A>T

Surrounding Variants

1 paper

NM_005581.5

p.A233T

c.697G>A

2 papers

NM_005581.5

p.R231Q

c.692G>A

1 paper

NM_005581.5

p.R231P

c.692G>C

1 paper

NM_005581.5

p.F235insFs

c.704dupT

1 paper

NM_005581.5

p.D230N

c.688G>A

1 paper

NM_005581.5

p.D230_R231ins4

c.688_692ins12

1 paper

NM_005581.5

p.H236R

c.707A>G

1 paper

NM_005581.5

p.R227C

c.679C>T

1 paper

NM_005581.5

p.C237C

c.711C>T

1 paper

NM_005581.5

p.A238A

c.714C>T

1 paper

NM_005581.5

p.A239T

c.715G>A

1 paper

NM_005581.5

p.L243M

c.727C>A