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.E43Q

c.127G>C

Surrounding Variants

1 paper

NM_001005373.4

p.S42S

c.126A>C

1 paper

NM_001005373.4

p.S37A

c.109T>G

1 paper

NM_001005373.4

p.A30G

c.89C>G

1 paper

NM_001005373.4

p.A30P

c.88G>C

2 papers

NM_001005373.4

p.R17C

c.49C>T

1 paper

NM_001005373.4

p.R15L

c.44G>T

1 paper

NM_001005373.4

p.S11G

c.31A>G

1 paper

NM_001005373.4

p.S11_R17delFs

c.31_50del20

2 papers

NM_001005373.4

p.K7R

c.20A>G

1 paper

NM_001005373.4

p.L55_Q56delFs

c.165_166delGC

1 paper

NM_001005373.4

p.N65S

c.194A>G

1 paper

NM_001005373.4

p.I83I

c.249C>T