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

1 paper

NM_015565.3

p.V1531D

c.4592T>A

Surrounding Variants

1 paper

NM_015565.3

p.P1534S

c.4600C>T

1 paper

NM_015565.3

p.T1525T

c.4575C>G

1 paper

NM_015565.3

p.R1589C

c.4765C>T

1 paper

NM_015565.3

p.M1636I

c.4908G>T

1 paper

NM_015565.3

p.M1636I

c.4908G>C

1 paper

NM_015565.3

p.M1636I

c.4908G>A

1 paper

NM_015565.3

p.L1485R

c.4454T>G

1 paper

NM_015565.3

p.L1441F

c.4321C>T

1 paper

NM_015565.3

p.I1717I

c.5151C>T

1 paper

NM_015565.3

p.S1728S

c.5184C>G

1 paper

NM_015565.3

p.Y1423S

c.4268A>C

1 paper

NM_015565.3

p.Y1402delFs

c.4206delA