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.D60N

c.178G>A

Surrounding Variants

1 paper

NM_005581.5

p.G57A

c.170G>C

1 paper

NM_005581.5

p.T56M

c.167C>T

1 paper

NM_005581.5

p.W66R

c.196T>C

1 paper

NM_005581.5

p.W66G

c.196T>G

1 paper

NM_005581.5

p.K47T

c.140A>C

1 paper

NM_005581.5

p.R45Q

c.134G>A

2 papers

NM_005581.5

p.R45*

c.133C>T

3 papers

NM_005581.5

p.P39L

c.116C>T

1 paper

NM_005581.5

p.P39fs

c.115_116fs

1 paper

NM_005581.5

p.P38delFs

c.112delC

2 papers

NM_005581.5

p.L35F

c.105G>C

1 paper

NM_005581.5

p.L35F

c.105G>T