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.N53K

c.159C>G

Surrounding Variants

1 paper

NM_012134.3

p.S59P

c.175T>C

1 paper

NM_012134.3

p.P46L

c.137C>T

1 paper

NM_012134.3

p.L69F

c.205C>T

1 paper

NM_012134.3

p.E33V

c.98A>T

1 paper

NM_012134.3

p.A67_K77delFs

c.200_231del32

1 paper

NM_012134.3

p.E28Q

c.82G>C

1 paper

NM_012134.3

p.D16_D18del3

c.46_53del9

1 paper

NM_012134.3

p.K6del1

c.16_18delTTT