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.L1096P

c.3287T>C

Surrounding Variants

1 paper

NM_015465.5

p.V1102V

c.3306G>A

1 paper

NM_015465.5

p.V1078I

c.3232G>A

1 paper

NM_015465.5

p.A1072T

c.3214G>A

1 paper

NM_015465.5

p.T1070A

c.3208A>G

1 paper

NM_015465.5

p.R1069G

c.3205A>G

1 paper

NM_015465.5

p.Q1115_G1116Splc

c.3345+24A>C

5 papers

NM_015465.5

p.L1068P

c.3203T>C

2 papers

NM_015465.5

p.A1056T

c.3166G>A

1 paper

NM_015465.5

p.D1054_A1055del1

c.3162_3164delGCA

1 paper

NM_015465.5

p.D1054_A1055del1

c.3161_3163delCAT

1 paper

NM_015465.5

p.A1055T

c.3163G>A

7 papers

NM_015465.5

p.D1019E

c.3057C>G