Varaico: Literature-Extracted Genetic Variants

Gene:LAMB4
Variant:p.Q831H

LAMB4

141 papers

Pfam Domains

Laminin_Naa 28–263UCSCLaminin N-terminal (Domain VI)
EGF_lamininaa 265–327UCSCLaminin EGF domain
EGF_LMN_ATRNaa 332–387UCSCLaminin/attractin EGF domain
EGF_lamininaa 395–452UCSCLaminin EGF domain
EGF_lamininaa 455–503UCSCLaminin EGF domain
EGF_lamininaa 506–550UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit beta 4

HGNC Previous Name

laminin, beta 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007356.3
p.Q831H
c.2493A>T
Surrounding Variants
1 paper
NM_007356.3
p.Q831H
c.2493A>C
1 paper
NM_007356.3
p.V828V
c.2484A>G
1 paper
NM_007356.3
p.K825*
c.2473A>T
1 paper
NM_007356.3
p.R846H
c.2537G>A
2 papers
NM_007356.3
p.R849H
c.2546G>A
1 paper
NM_007356.3
p.G853S
c.2557G>A
4 papers
NM_007356.3
p.N866S
c.2597A>G
1 paper
NM_007356.3
p.F868fs
c.2602_2603fs
1 paper
NM_007356.3
p.F868delFs
c.2604delA
1 paper
NM_007356.3
p.E875Q
c.2623G>C
1 paper
NM_007356.3
p.G900E
c.2699G>A
1 paper
NM_007356.3
p.R909H
c.2726G>A
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