Varaico: Literature-Extracted Genetic Variants

LTN1

69 papers

RefSeq Summary

Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010].

Pfam Domains

Ltn1_1staa 60–370UCSCE3 ubiquitin-protein ligase listerin, N-terminal domain

LTN1_E3_ligase_5thaa 1171–1352UCSCListerin HEAT repeat region

LTN1_E3_ligase_6thaa 1376–1615UCSCLTN1 family HEAT repeat region

UBC_likeaa 1624–1708UCSCUbiquitin conjugating domain-like

Gene Aliases

HGNC Name

listerin E3 ubiquitin protein ligase 1

HGNC Previous Symbols

C21orf98; C21orf10; ZNF294; RNF160

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015565.3

p.A813V

c.2438C>T

Surrounding Variants

1 paper

NM_015565.3

p.S811*

c.2432C>G

1 paper

NM_015565.3

p.G789R

c.2365G>A

1 paper

NM_015565.3

p.L928R

c.2783T>G

1 paper

NM_015565.3

p.G945_S946insC

c.2833_2837ins3

1 paper

NM_015565.3

p.S952_E953insA

c.2854_2858ins3

1 paper

NM_015565.3

p.Q964_W965Splc

c.2892+1G>A

1 paper

NM_015565.3

p.L977_N978insC

c.2929_2933ins3

1 paper

NM_015565.3

p.L1012_R1013insT

c.3034_3038ins3

1 paper

NM_015565.3

p.V1017_L1018insFs

c.3051_3052insA

1 paper

NM_015565.3

p.V1017_L1018del2

c.3049_3053del6

1 paper

NM_015565.3

p.E1022_L1023insT

c.3064_3068ins3

1 paper

NM_015565.3

p.D1062_L1067insFs

c.3185_3201dup17