Varaico: Literature-Extracted Genetic Variants

LAMB3

498 papers

RefSeq Summary

The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms la...

Pfam Domains

Laminin_Naa 26–248UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 250–313UCSCLaminin EGF domain

EGF_LMN_ATRNaa 316–371UCSCLaminin/attractin EGF domain

EGF_lamininaa 379–428UCSCLaminin EGF domain

EGF_lamininaa 431–478UCSCLaminin EGF domain

EGF_lamininaa 481–531UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit beta 3

HGNC Previous Symbol

LAMNB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000228.3

p.I634_V637delFs

c.1900_1909del10

Surrounding Variants

137 papers

NM_000228.3

p.R635*

c.1903C>T

1 paper

NM_000228.3

p.I634fs

c.1900_1901fs

1 paper

NM_000228.3

p.Q633*

c.1897C>T

1 paper

NM_000228.3

p.A642T

c.1924G>A

1 paper

NM_000228.3

p.K628R

c.1883A>G

1 paper

NM_000228.3

p.E647*

c.1939G>T

4 papers

NM_000228.3

p.V648delFs

c.1942delC

1 paper

NM_000228.3

p.L625_D626Fs

c.1874_1876delinsCFs

3 papers

NM_000228.3

p.A649insFs

c.1945dupG

2 papers

NM_000228.3

p.L625L

c.1873C>T

1 paper

NM_000228.3

p.Q650H

c.1950G>T

1 paper

NM_000228.3

p.Q650H

c.1950G>C