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.E426K

c.1276G>A

Surrounding Variants

1 paper

NM_001005373.4

p.R427*

c.1279C>T

4 papers

NM_001005373.4

p.S433L

c.1298C>T

1 paper

NM_001005373.4

p.Q435delins

c.1304_1305delinsAA

1 paper

NM_001005373.4

p.Q435Fs

c.1305delinsAAFs

1 paper

NM_001005373.4

p.E449_S450Splc

c.1348-108C>A

1 paper

NM_001005373.4

p.E449_S450Splc

c.1348-34G>A

1 paper

NM_001005373.4

p.A451T

c.1351G>A

2 papers

NM_001005373.4

p.A451A

c.1353G>A

1 paper

NM_001005373.4

p.A456V

c.1367C>T

1 paper

NM_001005373.4

p.A456A

c.1368G>A

1 paper

NM_001005373.4

p.Q461L

c.1382A>T

1 paper

NM_001005373.4

p.Q409P

c.1226A>C