Varaico: Literature-Extracted Genetic Variants

LRSAM1

142 papers

RefSeq Summary

This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sor...

Pfam Domains

LRR_14aa 123–206UCSCLeucine-rich repeat region

SAM_2aa 572–630UCSCSAM domain (Sterile alpha motif)

zf-C3HC4_3aa 671–716UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

leucine rich repeat and sterile alpha motif containing 1

HGNC Alias Symbols

FLJ31641; CMT2P; RIFLE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001005373.4

p.E638Splc

c.1913-1G>A

Surrounding Variants

1 paper

NM_001005373.4

p.E638delFs

c.1913_1914delAG

1 paper

NM_001005373.4

p.L639P

c.1916T>C

1 paper

NM_001005373.4

p.G644C

c.1930G>T

2 papers

NM_001005373.4

p.V659M

c.1975G>A

1 paper

NM_001005373.4

p.A663V

c.1988C>T

1 paper

NM_001005373.4

p.E669*

c.2005G>T

1 paper

NM_001005373.4

p.Q671delFs

c.2011delC

1 paper

NM_001005373.4

p.Q671fs

c.2011_2012fs

1 paper

NM_001005373.4

p.Q671*

c.2011C>T

1 paper

NM_001005373.4

p.S673insFs

c.2018_2019insA

1 paper

NM_001005373.4

p.E674fs

c.2020_2021fs

1 paper

NM_001005373.4

p.E674fs

c.2020_2021fs