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

5 papers

NM_015465.5

p.P594R

c.1781C>G

Surrounding Variants

1 paper

NM_015465.5

p.P594L

c.1781C>T

1 paper

NM_015465.5

p.A601V

c.1802C>T

1 paper

NM_015465.5

p.N606N

c.1818T>C

5 papers

NM_015465.5

p.V611M

c.1831G>A

4 papers

NM_015465.5

p.S543G

c.1627A>G

2 papers

NM_015465.5

p.Y534*

c.1602C>G

2 papers

NM_015465.5

p.Y534*

c.1602C>A

1 paper

NM_015465.5

p.K533_Y534Splc

c.1600-2A>G

1 paper

NM_015465.5

p.N530S

c.1589A>G

1 paper

NM_015465.5

p.E518K

c.1552G>A

1 paper

NM_015465.5

p.G517R

c.1549G>A

1 paper

NM_015465.5

p.P512L

c.1535C>T