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

6 papers

NM_015465.5

p.D704E

c.2112C>G

Surrounding Variants

5 papers

NM_015465.5

p.D704E

c.2112C>A

6 papers

NM_015465.5

p.G683D

c.2048G>A

1 paper

NM_015465.5

p.G680*

c.2038G>T

1 paper

NM_015465.5

p.R671Q

c.2012G>A

1 paper

NM_015465.5

p.Q665_V666Splc

c.1995+13C>G

2 papers

NM_015465.5

p.G662D

c.1985G>A

1 paper

NM_015465.5

p.E619delFs

c.1856delT

1 paper

NM_015465.5

p.E619fs

c.1855_1856fs

3 papers

NM_015465.5

p.R733fs

c.2197_2198fs

1 paper

NM_015465.5

p.K732insFs

c.2196dupA

1 paper

NM_015465.5

p.L734F

c.2200C>T

1 paper

NM_015465.5

p.K742*

c.2224A>T