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.N1043Splc

c.3129-8C>T

Surrounding Variants

1 paper

NM_005560.6

p.L1046L

c.3138C>T

1 paper

NM_005560.6

p.F1055F

c.3165C>T

1 paper

NM_005560.6

p.P1056A

c.3166C>G

2 papers

NM_005560.6

p.S1057L

c.3170C>T

1 paper

NM_005560.6

p.T1077M

c.3230C>T

1 paper

NM_005560.6

p.L1080P

c.3239T>C

1 paper

NM_005560.6

p.P1082T

c.3244C>A

1 paper

NM_005560.6

p.Q1079_S1083del5

c.3235_3248del15

1 paper

NM_005560.6

p.Y1033H

c.3097T>C

1 paper

NM_005560.6

p.T1032I

c.3095C>T

1 paper

NM_005560.6

p.D1094_V1095Splc

c.3282+5G>A

4 papers

NM_005560.6

p.A1021V

c.3062C>T