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.N415delFs

c.1243_1244delTT

Surrounding Variants

3 papers

NM_012134.3

p.R421H

c.1262G>A

1 paper

NM_012134.3

p.R409W

c.1225C>T

1 paper

NM_012134.3

p.R426*

c.1276C>T

1 paper

NM_012134.3

p.T433M

c.1298C>T

1 paper

NM_012134.3

p.S391N

c.1172G>A

1 paper

NM_012134.3

p.L447P

c.1340T>C

3 papers

NM_012134.3

p.D372N

c.1114G>A

4 papers

NM_012134.3

p.R370*

c.1108C>T

4 papers

NM_012134.3

p.T369M

c.1106C>T

1 paper

NM_012134.3

p.L466V

c.1396C>G

1 paper

NM_012134.3

p.R478W

c.1432C>T

1 paper

NM_012134.3

p.R478Q

c.1433G>A