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

1 paper

NM_001005373.4

p.C678G

c.2032T>G

Surrounding Variants

1 paper

NM_001005373.4

p.E680_R681insFs

c.2039_2043dup5

1 paper

NM_001005373.4

p.E680delFs

c.2038delG

2 papers

NM_001005373.4

p.E680*

c.2038G>T

1 paper

NM_001005373.4

p.E680fs

c.2038_2039fs

2 papers

NM_001005373.4

p.R681W

c.2041C>T

1 paper

NM_001005373.4

p.E674fs

c.2020_2021fs

1 paper

NM_001005373.4

p.E674fs

c.2020_2021fs

1 paper

NM_001005373.4

p.S673insFs

c.2018_2019insA

4 papers

NM_001005373.4

p.E682_A683Splc

c.2046+1G>T

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.Q671delFs

c.2011delC