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

3 papers

NM_001005373.4

p.R530W

c.1588C>T

Surrounding Variants

1 paper

NM_001005373.4

p.W509*

c.1527G>A

1 paper

NM_001005373.4

p.W509*

c.1526G>A

1 paper

NM_001005373.4

p.S505L

c.1514C>T

1 paper

NM_001005373.4

p.L500F

c.1498C>T

1 paper

NM_001005373.4

p.L495_T497del3

c.1483_1490del9

1 paper

NM_001005373.4

p.E489K

c.1465G>A

1 paper

NM_001005373.4

p.L533_T534Splc

c.1600-106A>G

1 paper

NM_001005373.4

p.R543R

c.1629G>A

1 paper

NM_001005373.4

p.I550N

c.1649T>A

1 paper

NM_001005373.4

p.Q553P

c.1658A>C

1 paper

NM_001005373.4

p.R554W

c.1660C>T

1 paper

NM_001005373.4

p.M570L

c.1708A>C