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

1 paper

NM_022041.4

p.E308K

c.922G>A

Surrounding Variants

1 paper

NM_022041.4

p.E308*

c.922G>T

9 papers

NM_022041.4

p.L309R

c.926T>G

1 paper

NM_022041.4

p.N302Y

c.904A>T

1 paper

NM_022041.4

p.P315R

c.944C>G

10 papers

NM_022041.4

p.P315L

c.944C>T

6 papers

NM_022041.4

p.Y299C

c.896A>G

1 paper

NM_022041.4

p.L298F

c.892C>T

2 papers

NM_022041.4

p.P297L

c.890C>T

1 paper

NM_022041.4

p.V321D

c.962T>A

14 papers

NM_022041.4

p.R293*

c.877C>T

4 papers

NM_022041.4

p.A324V

c.971C>T

5 papers

NM_022041.4

p.E325K

c.973G>A