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

1–12 of 163 variants

8 papers

NM_001005373.4

p.C694Y

c.2081G>A

8 papers

NM_001005373.4

p.P707L

c.2120C>T

7 papers

NM_001005373.4

p.C694R

c.2080T>C

6 papers

NM_001005373.4

p.E682_A683Splc

c.2047-1G>A

5 papers

NM_001005373.4

p.N318D

c.952A>G

4 papers

NM_001005373.4

p.P215A

c.643C>G

4 papers

NM_001005373.4

p.S433L

c.1298C>T

4 papers

NM_001005373.4

p.E638Splc

c.1913-1G>A

4 papers

NM_001005373.4

p.E682_A683Splc

c.2046+1G>T

4 papers

NM_001005373.4

p.L708insFs

c.2122_2123insGC

4 papers

NM_001005373.4

p.L708fs

c.2122_2123fs

3 papers

NM_001005373.4

p.N91insFs

c.272dupA