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.N91insFs

c.272dupA

Surrounding Variants

1 paper

NM_001005373.4

p.L86V

c.256C>G

1 paper

NM_001005373.4

p.T104A

c.310A>G

1 paper

NM_001005373.4

p.I83I

c.249C>T

1 paper

NM_001005373.4

p.N65S

c.194A>G

1 paper

NM_001005373.4

p.Q107_V108Splc

c.322-407C>T

1 paper

NM_001005373.4

p.R121H

c.362G>A

1 paper

NM_001005373.4

p.N125S

c.374A>G

2 papers

NM_001005373.4

p.N125K

c.375C>A

2 papers

NM_001005373.4

p.N125K

c.375C>G

1 paper

NM_001005373.4

p.T127S

c.379A>T

1 paper

NM_001005373.4

p.Q130*

c.388C>T

1 paper

NM_001005373.4

p.V134delFs

c.400delG