Varaico: Literature-Extracted Genetic Variants

GEMIN5

122 papers

RefSeq Summary

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal sm...

Pfam Domains

Beta-prop_RIG_1staa 64–260UCSCRIG first beta-propeller

WD40aa 229–255UCSCWD domain, G-beta repeat

Beta-prop_RIG_2ndaa 389–703UCSCRIG second beta-propeller

TPR_GEMI5aa 893–1101UCSCGEMI5 TPR domain

GEMI5_RBSaa 1156–1494UCSCGEMI5 RBS C-terminal domain

Gene Aliases

HGNC Name

gem nuclear organelle associated protein 5

HGNC Previous Name

gem (nuclear organelle) associated protein 5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015465.5

p.L851fs

c.2551_2552fs

Surrounding Variants

1 paper

NM_015465.5

p.L851fs

c.2551_2552fs

1 paper

NM_015465.5

p.T853A

c.2557A>G

1 paper

NM_015465.5

p.S847A

c.2539T>G

1 paper

NM_015465.5

p.R846H

c.2537G>A

1 paper

NM_015465.5

p.I840_K841delFs

c.2519_2522del4

2 papers

NM_015465.5

p.E837Splc

c.2510-2A>T

1 paper

NM_015465.5

p.D866G

c.2597A>G

1 paper

NM_015465.5

p.K835R

c.2504A>G

1 paper

NM_015465.5

p.E834G

c.2501A>G

1 paper

NM_015465.5

p.K828R

c.2483A>G

1 paper

NM_015465.5

p.G812G

c.2436C>T

1 paper

NM_015465.5

p.S811L

c.2432C>T