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

5 papers

NM_012134.3

p.R227H

c.680G>A

Surrounding Variants

1 paper

NM_012134.3

p.V214insFs

c.641_642insT

1 paper

NM_012134.3

p.A242S

c.724G>T

1 paper

NM_012134.3

p.E210K

c.628G>A

1 paper

NM_012134.3

p.N245S

c.734A>G

1 paper

NM_012134.3

p.R257K

c.770G>A

1 paper

NM_012134.3

p.R196S

c.588G>C

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.T264N

c.791C>A

1 paper

NM_012134.3

p.D267D

c.801C>T

1 paper

NM_012134.3

p.D267E

c.801C>G

1 paper

NM_012134.3

p.D267E

c.801C>A