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

1–12 of 189 variants

10 papers

NM_015465.5

p.R1016C

c.3046C>T

8 papers

NM_015465.5

p.D1019E

c.3057C>A

7 papers

NM_015465.5

p.H913R

c.2738A>G

7 papers

NM_015465.5

p.I988F

c.2962A>T

7 papers

NM_015465.5

p.D1019E

c.3057C>G

6 papers

NM_015465.5

p.G683D

c.2048G>A

6 papers

NM_015465.5

p.D704E

c.2112C>G

6 papers

NM_015465.5

p.H923P

c.2768A>C

6 papers

NM_015465.5

p.Y1282H

c.3844T>C

6 papers

NM_015465.5

p.Y1286C

c.3857A>G

6 papers

NM_015465.5

p.L1367P

c.4100T>C

5 papers

NM_015465.5

p.P594R

c.1781C>G