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

12 papers

NM_022041.4

p.S52G

c.154A>G

Surrounding Variants

4 papers

NM_022041.4

p.S52N

c.155G>A

4 papers

NM_022041.4

p.A51P

c.151G>C

3 papers

NM_022041.4

p.P53L

c.158C>T

9 papers

NM_022041.4

p.A49E

c.146C>A

6 papers

NM_022041.4

p.A49T

c.145G>A

1 paper

NM_022041.4

p.L48P

c.143T>C

1 paper

NM_022041.4

p.L48R

c.143T>G

2 papers

NM_022041.4

p.I47T

c.140T>C

4 papers

NM_022041.4

p.Q44*

c.130C>T

1 paper

NM_022041.4

p.I41F

c.121A>T

1 paper

NM_022041.4

p.G38E

c.113G>A

2 papers

NM_022041.4

p.V35F

c.103G>T