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

1–12 of 69 variants

7 papers

NM_012134.3

p.T295M

c.884C>T

5 papers

NM_012134.3

p.R227H

c.680G>A

4 papers

NM_012134.3

p.T369M

c.1106C>T

4 papers

NM_012134.3

p.R370*

c.1108C>T

3 papers

NM_012134.3

p.N345K

c.1035T>G

3 papers

NM_012134.3

p.N345K

c.1035T>A

3 papers

NM_012134.3

p.D372N

c.1114G>A

3 papers

NM_012134.3

p.R421H

c.1262G>A

1 paper

NM_012134.3

p.K6del1

c.16_18delTTT

1 paper

NM_012134.3

p.D16_D18del3

c.46_53del9

1 paper

NM_012134.3

p.E28Q

c.82G>C

1 paper

NM_012134.3

p.E33V

c.98A>T