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.E176_M177Splc

c.528+1G>T

Surrounding Variants

1 paper

NM_001005373.4

p.E176_M177Splc

c.528+1G>C

1 paper

NM_001005373.4

p.P166L

c.497C>T

1 paper

NM_001005373.4

p.L165_P166del1

c.495_497delGCC

1 paper

NM_001005373.4

p.L165_P166del2

c.493_497del6

1 paper

NM_001005373.4

p.I157T

c.470T>C

1 paper

NM_001005373.4

p.S151C

c.451A>T

1 paper

NM_001005373.4

p.G147R

c.439G>A

1 paper

NM_001005373.4

p.G147R

c.439G>C

1 paper

NM_001005373.4

p.D144H

c.430G>C

1 paper

NM_001005373.4

p.L142F

c.424C>T

1 paper

NM_001005373.4

p.E141fs

c.421_422fs

1 paper

NM_001005373.4

p.K140_E141insFs

c.420_421ins20