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.P457A

c.1369C>G

Surrounding Variants

1 paper

NM_005581.5

p.K451Q

c.1351A>C

1 paper

NM_005581.5

p.W463*

c.1388G>A

1 paper

NM_005581.5

p.W463*

c.1389G>A

1 paper

NM_005581.5

p.E465K

c.1393G>A

1 paper

NM_005581.5

p.G466E

c.1397G>A

5 papers

NM_005581.5

p.S447L

c.1340C>T

1 paper

NM_005581.5

p.D467D

c.1401C>T

1 paper

NM_005581.5

p.E468K

c.1402G>A

1 paper

NM_005581.5

p.G477S

c.1429G>A

1 paper

NM_005581.5

p.S486G

c.1456A>G

2 papers

NM_005581.5

p.Q487R

c.1460A>G

1 paper

NM_005581.5

p.G489E

c.1466G>A