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.M570I

c.1710G>T

Surrounding Variants

1 paper

NM_001005373.4

p.M570I

c.1710G>A

1 paper

NM_001005373.4

p.M570I

c.1710G>C

1 paper

NM_001005373.4

p.M570L

c.1708A>C

1 paper

NM_001005373.4

p.M570L

c.1708A>T

1 paper

NM_001005373.4

p.R572C

c.1714C>T

2 papers

NM_001005373.4

p.Q573K

c.1717C>A

1 paper

NM_001005373.4

p.E584K

c.1750G>A

2 papers

NM_001005373.4

p.R594C

c.1780C>T

1 paper

NM_001005373.4

p.D598N

c.1792G>A

1 paper

NM_001005373.4

p.L599Q

c.1796T>A

1 paper

NM_001005373.4

p.Q602*

c.1804C>T

1 paper

NM_001005373.4

p.D607fs

c.1819_1820fs