Varaico: Literature-Extracted Genetic Variants

GAN

216 papers

RefSeq Summary

This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in med...

Pfam Domains

BTBaa 20–128UCSCBTB/POZ domain

BACKaa 134–236UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 270–475UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

gigaxonin

HGNC Alias Symbols

GAN1; KLHL16; GIG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_022041.4

p.Q94_I95Splc

c.282+3A>C

Surrounding Variants

1 paper

NM_022041.4

p.Q94_I95Splc

c.282+3A>G

1 paper

NM_022041.4

p.Q94R

c.281A>G

2 papers

NM_022041.4

p.Q94*

c.280C>T

3 papers

NM_022041.4

p.G93R

c.277G>A

3 papers

NM_022041.4

p.G93R

c.277G>C

3 papers

NM_022041.4

p.Y89S

c.266A>C

7 papers

NM_022041.4

p.Y89C

c.266A>G

3 papers

NM_022041.4

p.I86F

c.256A>T

12 papers

NM_022041.4

p.V82F

c.244G>T

11 papers

NM_022041.4

p.S79L

c.236C>T

1 paper

NM_022041.4

p.I78M

c.234A>G

3 papers

NM_022041.4

p.L75H

c.224T>A