Varaico: Literature-Extracted Genetic Variants

LMNA

3,236 papers

RefSeq Summary

The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are...

Pfam Domains

Filamentaa 1–200UCSCIntermediate filament protein

Filamentaa 30–386UCSCIntermediate filament protein

Filamentaa 38–305UCSCIntermediate filament protein

LTDaa 247–359UCSCLamin Tail Domain

LTDaa 433–545UCSCLamin Tail Domain

Gene Aliases

HGNC Name

lamin A/C

HGNC Previous Symbols

LMN1; CMD1A; LGMD1B; PRO1; LMNL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

69 papers

NM_170707.4

p.R541C

c.1621C>T

Surrounding Variants

28 papers

NM_170707.4

p.R541S

c.1621C>A

19 papers

NM_170707.4

p.R541G

c.1621C>G

42 papers

NM_170707.4

p.R541H

c.1622G>A

9 papers

NM_170707.4

p.M540I

c.1620G>A

26 papers

NM_170707.4

p.R541P

c.1622G>C

9 papers

NM_170707.4

p.M540I

c.1620G>C

9 papers

NM_170707.4

p.M540I

c.1620G>T

5 papers

NM_170707.4

p.R541R

c.1623C>T

55 papers

NM_170707.4

p.M540T

c.1619T>C

1 paper

NM_170707.4

p.K542Q

c.1624A>C

1 paper

NM_170707.4

p.K542T

c.1625A>C

2 papers

NM_170707.4

p.K542R

c.1625A>G