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

1 paper

NM_015465.5

p.A1305delFs

c.3913delC

Surrounding Variants

3 papers

NM_015465.5

p.A1305fs

c.3913_3914fs

1 paper

NM_015465.5

p.S1311fs

c.3931_3932fs

3 papers

NM_015465.5

p.L1310_S1311delFs

c.3930_3933del4

1 paper

NM_015465.5

p.R1294K

c.3881G>A

1 paper

NM_015465.5

p.D1319H

c.3955G>C

1 paper

NM_015465.5

p.S1291F

c.3872C>T

6 papers

NM_015465.5

p.Y1286C

c.3857A>G

4 papers

NM_015465.5

p.Y1286N

c.3856T>A

6 papers

NM_015465.5

p.Y1282H

c.3844T>C

1 paper

NM_015465.5

p.L1281F

c.3841C>T

1 paper

NM_015465.5

p.F1279delFs

c.3837delA

1 paper

NM_015465.5

p.F1280I

c.3838T>A