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.P215A

c.643C>G

Surrounding Variants

1 paper

NM_001005373.4

p.P214S

c.640C>T

1 paper

NM_001005373.4

p.Y213fs

c.637_638fs

1 paper

NM_001005373.4

p.I228M

c.684C>G

1 paper

NM_001005373.4

p.R241I

c.722G>T

1 paper

NM_001005373.4

p.Q250_N251Splc

c.750+33G>A

1 paper

NM_001005373.4

p.F253V

c.757T>G

1 paper

NM_001005373.4

p.S254P

c.760T>C

1 paper

NM_001005373.4

p.R272W

c.814C>T

1 paper

NM_001005373.4

p.R273G

c.817C>G

2 papers

NM_001005373.4

p.D293N

c.877G>A

1 paper

NM_001005373.4

p.L296F

c.886C>T

1 paper

NM_001005373.4

p.E301_E302Splc

c.903+38T>C