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

7 papers

NM_001005373.4

p.C694R

c.2080T>C

Surrounding Variants

8 papers

NM_001005373.4

p.C694Y

c.2081G>A

3 papers

NM_001005373.4

p.Q698_P702del0

c.2093_2104del12

1 paper

NM_001005373.4

p.H692R

c.2075A>G

1 paper

NM_001005373.4

p.H692D

c.2074C>G

1 paper

NM_001005373.4

p.H692fs

c.2074_2075fs

1 paper

NM_001005373.4

p.H692_C696delFs

c.2075_2087del13

2 papers

NM_001005373.4

p.Q697R

c.2090A>G

2 papers

NM_001005373.4

p.C690R

c.2068T>C

3 papers

NM_001005373.4

p.P702_Q711ins3

c.2104_2133dup30

1 paper

NM_001005373.4

p.Q701del1

c.2101_2102delCAG

1 paper

NM_001005373.4

p.F687S

c.2060T>C

1 paper

NM_001005373.4

p.A683P

c.2047G>C