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.E375A

c.1124A>C

Surrounding Variants

1 paper

NM_001005373.4

p.T373N

c.1118C>A

1 paper

NM_001005373.4

p.S358W

c.1073C>G

1 paper

NM_001005373.4

p.Q390*

c.1168C>T

1 paper

NM_001005373.4

p.L393Q

c.1178T>A

1 paper

NM_001005373.4

p.T394I

c.1181C>T

1 paper

NM_001005373.4

p.Q403_M404insT

c.1207_1211ins3

1 paper

NM_001005373.4

p.E407K

c.1219G>A

1 paper

NM_001005373.4

p.Q409E

c.1225C>G

1 paper

NM_001005373.4

p.Q409P

c.1226A>C

1 paper

NM_001005373.4

p.R348Splc

c.1043+1G>T

1 paper

NM_001005373.4

p.R338Q

c.1013G>A

1 paper

NM_001005373.4

p.R338W

c.1012C>T