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.T1355A

c.4063A>G

Surrounding Variants

1 paper

NM_015465.5

p.S1361L

c.4082C>T

4 papers

NM_015465.5

p.H1364P

c.4091A>C

6 papers

NM_015465.5

p.L1367P

c.4100T>C

1 paper

NM_015465.5

p.D1319H

c.3955G>C

3 papers

NM_015465.5

p.L1310_S1311delFs

c.3930_3933del4

1 paper

NM_015465.5

p.S1311fs

c.3931_3932fs

1 paper

NM_015465.5

p.A1305delFs

c.3913delC

3 papers

NM_015465.5

p.A1305fs

c.3913_3914fs

1 paper

NM_015465.5

p.A1410delFs

c.4229delG

1 paper

NM_015465.5

p.Q1412Q

c.4236G>A

1 paper

NM_015465.5

p.R1294K

c.3881G>A

1 paper

NM_015465.5

p.S1417F

c.4250C>T