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

7 papers

NM_015465.5

p.H913R

c.2738A>G

Surrounding Variants

1 paper

NM_015465.5

p.H913P

c.2738A>C

1 paper

NM_015465.5

p.H923R

c.2768A>G

6 papers

NM_015465.5

p.H923P

c.2768A>C

3 papers

NM_015465.5

p.L925F

c.2773C>T

1 paper

NM_015465.5

p.D931V

c.2792A>T

1 paper

NM_015465.5

p.G943R

c.2827G>C

1 paper

NM_015465.5

p.G943R

c.2827G>A

1 paper

NM_015465.5

p.L902Q

c.2705T>A

1 paper

NM_015465.5

p.R899fs

c.2695_2696fs

1 paper

NM_015465.5

p.T897A

c.2689A>G

3 papers

NM_015465.5

p.Y958H

c.2872T>C

1 paper

NM_015465.5

p.W961S

c.2882G>C