Varaico: Literature-Extracted Genetic Variants

LAMA4

233 papers

RefSeq Summary

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including ...

Pfam Domains

EGF_LMN_ATRNaa 82–129UCSCLaminin/attractin EGF domain

EGF_lamininaa 132–184UCSCLaminin EGF domain

EGF_lamininaa 187–243UCSCLaminin EGF domain

Laminin_Iaa 291–548UCSCLaminin Domain I

Laminin_IIaa 727–854UCSCLaminin Domain II

Laminin_G_2aa 867–1007UCSCLaminin G domain

Gene Aliases

HGNC Name

laminin subunit alpha 4

HGNC Previous Name

laminin, alpha 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001105206.3

p.G1094_S1095Splc

c.3283-3C>G

Surrounding Variants

1 paper

NM_001105206.3

p.V1109M

c.3325G>A

1 paper

NM_001105206.3

p.G1117C

c.3349G>T

7 papers

NM_002290.5

p.G1110S

c.3328G>A

NM_001105206.3

p.G1117S

c.3349G>A

11 papers

NM_001105206.3

p.P1119R

c.3356C>G

1 paper

NM_001105206.3

p.Q1130R

c.3389A>G

1 paper

NM_001105206.3

p.K1165R

c.3494A>G

1 paper

NM_001105206.3

p.P1169L

c.3506C>T

1 paper

NM_001105206.3

p.G1176_G1177insT

c.3526_3530ins3

1 paper

NM_001105206.3

p.F1198Y

c.3593T>A

1 paper

NM_001105206.3

p.G1200E

c.3599G>A

2 papers

NM_002290.5

p.F1198Y

c.3593T>A

1 paper

NM_001105206.3

p.Q1206R

c.3617A>G