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.R338Q

c.1013G>A

Surrounding Variants

1 paper

NM_001005373.4

p.R338W

c.1012C>T

1 paper

NM_001005373.4

p.R348Splc

c.1043+1G>T

1 paper

NM_001005373.4

p.R321W

c.961C>T

2 papers

NM_001005373.4

p.N318N

c.954C>T

5 papers

NM_001005373.4

p.N318D

c.952A>G

1 paper

NM_001005373.4

p.Q314R

c.941A>G

1 paper

NM_001005373.4

p.E307E

c.921G>A

1 paper

NM_001005373.4

p.R305W

c.913C>T

1 paper

NM_001005373.4

p.E301_E302Splc

c.904-9C>T

1 paper

NM_001005373.4

p.E301_E302Splc

c.903+38T>C

1 paper

NM_001005373.4

p.L296F

c.886C>T

2 papers

NM_001005373.4

p.D293N

c.877G>A