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

12 papers

NM_005581.5

p.R77H

c.230G>A

Surrounding Variants

1 paper

NM_005581.5

p.R77insFs

c.230_231ins4

1 paper

NM_005581.5

p.L78V

c.232C>G

1 paper

NM_005581.5

p.L78L

c.232C>T

1 paper

NM_005581.5

p.R75H

c.224G>A

1 paper

NM_005581.5

p.R75C

c.223C>T

1 paper

NM_005581.5

p.R71H

c.212G>A

1 paper

NM_005581.5

p.D70Y

c.208G>T

1 paper

NM_005581.5

p.E87delFs

c.261delG

1 paper

NM_005581.5

p.D94N

c.280G>A

2 papers

NM_005581.5

p.D94E

c.282C>A

2 papers

NM_005581.5

p.D94E

c.282C>G

1 paper

NM_005581.5

p.R98_Q103del6

c.292_308del18