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.E168_I169Splc

c.505-65G>C

Surrounding Variants

1 paper

NM_005581.5

p.A170T

c.508G>A

1 paper

NM_005581.5

p.N173_R175insFs

c.519_525dup7

1 paper

NM_005581.5

p.R175Q

c.524G>A

2 papers

NM_005581.5

p.R175_N176insFs

c.525_526ins7

1 paper

NM_005581.5

p.N176insFs

c.526_527ins7

1 paper

NM_005581.5

p.N176D

c.526A>G

1 paper

NM_005581.5

p.R187C

c.559C>T

12 papers

NM_005581.5

p.V196I

c.586G>A

1 paper

NM_005581.5

p.E201Splc

c.602-1G>C

8 papers

NM_005581.5

p.M204K

c.611T>A

2 papers

NM_005581.5

p.S213L

c.638C>T

1 paper

NM_005581.5

p.T221I

c.662C>T