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

1–12 of 191 variants

12 papers

NM_005581.5

p.R77H

c.230G>A

12 papers

NM_005581.5

p.V196I

c.586G>A

8 papers

NM_005581.5

p.M204K

c.611T>A

5 papers

NM_005581.5

p.S447L

c.1340C>T

5 papers

NM_005581.5

p.T539A

c.1615A>G

4 papers

NM_005581.5

p.Q581L

c.1742A>T

4 papers

NM_005581.5

p.P589L

c.1766C>T

3 papers

NM_005581.5

p.P39L

c.116C>T

3 papers

NM_005581.5

p.E325K

c.973G>A

3 papers

NM_005581.5

p.R499W

c.1495C>T

3 papers

NM_005581.5

p.R532L

c.1595G>T

3 papers

NM_005581.5

p.L562F

c.1684C>T