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.D267E

c.801C>G

Surrounding Variants

1 paper

NM_012134.3

p.D267D

c.801C>T

1 paper

NM_012134.3

p.D267E

c.801C>A

1 paper

NM_012134.3

p.E269E

c.807A>G

1 paper

NM_012134.3

p.K270E

c.808A>G

1 paper

NM_012134.3

p.T264N

c.791C>A

1 paper

NM_012134.3

p.R257K

c.770G>A

1 paper

NM_012134.3

p.N245S

c.734A>G

1 paper

NM_012134.3

p.E292D

c.876G>T

1 paper

NM_012134.3

p.E292D

c.876G>C

1 paper

NM_012134.3

p.A242S

c.724G>T

7 papers

NM_012134.3

p.T295M

c.884C>T

1 paper

NM_012134.3

p.P299insFs

c.896_897insC