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

3 papers

NM_015465.5

p.W373*

c.1118G>A

Surrounding Variants

3 papers

NM_015465.5

p.W373*

c.1119G>A

1 paper

NM_015465.5

p.Y383F

c.1148A>T

3 papers

NM_015465.5

p.D360_V361Splc

c.1081-2A>G

1 paper

NM_015465.5

p.F387L

c.1161C>A

1 paper

NM_015465.5

p.I392M

c.1176A>G

1 paper

NM_015465.5

p.G398R

c.1192G>C

1 paper

NM_015465.5

p.R405S

c.1213C>A

1 paper

NM_015465.5

p.S411fs

c.1231_1232fs

1 paper

NM_015465.5

p.S411delFs

c.1231_1232delGA

1 paper

NM_015465.5

p.D360_V361Splc

c.1081-90C>T

1 paper

NM_015465.5

p.D417Y

c.1249G>T

1 paper

NM_015465.5

p.M357K

c.1070T>A