Varaico: Literature-Extracted Genetic Variants

LAMA5

377 papers

RefSeq Summary

This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been i...

Pfam Domains

Laminin_Naa 45–298UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 300–356UCSCLaminin EGF domain

EGF_LMN_ATRNaa 359–420UCSCLaminin/attractin EGF domain

EGF_lamininaa 429–477UCSCLaminin EGF domain

EGF_lamininaa 494–539UCSCLaminin EGF domain

EGF_lamininaa 541–585UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit alpha 5

HGNC Previous Name

laminin, alpha 5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005560.6

p.R3313W

c.9937C>T

Surrounding Variants

2 papers

NM_005560.6

p.P3301L

c.9902C>T

1 paper

NM_005560.6

p.P3294delFs

c.9882delG

1 paper

NM_005560.6

p.P3294fs

c.9880_9881fs

1 paper

NM_005560.6

p.V3286I

c.9856G>A

1 paper

NM_005560.6

p.R3318S

c.9952C>A

1 paper

NM_005560.6

p.V3276I

c.9826G>A

1 paper

NM_005560.6

p.A3323T

c.9967G>A

1 paper

NM_005560.6

p.R3269Q

c.9806G>A

1 paper

NM_005560.6

p.R3269Q

c.9806G>A

1 paper

NM_005560.6

p.V3267M

c.9799G>A

1 paper

NM_005560.6

p.P3242P

c.9726G>A

1 paper

NM_005560.6

p.S3365G

c.10093A>G