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.S3365G

c.10093A>G

Surrounding Variants

1 paper

NM_005560.6

p.P3372L

c.10115C>T

1 paper

NM_005560.6

p.L3380del1

c.10138_10139delGAG

1 paper

NM_005560.6

p.Q3404H

c.10212G>T

1 paper

NM_005560.6

p.Q3404H

c.10212G>C

1 paper

NM_005560.6

p.A3323T

c.9967G>A

1 paper

NM_005560.6

p.R3318S

c.9952C>A

1 paper

NM_005560.6

p.R3436W

c.10306C>T

3 papers

NM_005560.6

p.T3441M

c.10322C>T

1 paper

NM_005560.6

p.R3313W

c.9937C>T

2 papers

NM_005560.6

p.H3453Q

c.10359C>G

2 papers

NM_005560.6

p.H3453Q

c.10359C>A

1 paper

NM_005560.6

p.R3454W

c.10360C>T