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.I155M

c.465C>G

Surrounding Variants

1 paper

NM_012134.3

p.E152del1

c.454_455delCTC

1 paper

NM_012134.3

p.D159G

c.476A>G

1 paper

NM_012134.3

p.D168V

c.503A>T

1 paper

NM_012134.3

p.D175N

c.523G>A

1 paper

NM_012134.3

p.D175E

c.525T>G

1 paper

NM_012134.3

p.D175E

c.525T>A

1 paper

NM_012134.3

p.S135C

c.404C>G

1 paper

NM_012134.3

p.G178E

c.533G>A

1 paper

NM_012134.3

p.K123R

c.368A>G

1 paper

NM_012134.3

p.G193R

c.577G>C

1 paper

NM_012134.3

p.G193R

c.577G>A

1 paper

NM_012134.3

p.R196S

c.588G>C