Varaico: Literature-Extracted Genetic Variants

LMOD1

86 papers

RefSeq Summary

The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye mus...

Pfam Domains

Tropomodulinaa 6–118UCSCTropomodulin

LRR_TMOD-LMODaa 316–473UCSCTMOD/LMOD Leucine-rich domain

WH2aa 571–600UCSCWH2 motif

Gene Aliases

HGNC Name

leiomodin 1

HGNC Alias Symbols

64kD; D1; 1D; SM-LMOD; SMLMOD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012134.3

p.P513S

c.1537C>T

Surrounding Variants

1 paper

NM_012134.3

p.S508F

c.1523C>T

1 paper

NM_012134.3

p.V504M

c.1510G>A

1 paper

NM_012134.3

p.A503V

c.1508C>T

1 paper

NM_012134.3

p.P539P

c.1617T>C

1 paper

NM_012134.3

p.P543insFs

c.1627_1628insG

1 paper

NM_012134.3

p.R478Q

c.1433G>A

1 paper

NM_012134.3

p.E548K

c.1642G>A

1 paper

NM_012134.3

p.R478W

c.1432C>T

1 paper

NM_012134.3

p.A557S

c.1669G>T

1 paper

NM_012134.3

p.T558A

c.1672A>G

1 paper

NM_012134.3

p.L466V

c.1396C>G

1 paper

NM_012134.3

p.L447P

c.1340T>C