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

1–12 of 233 variants

20 papers

NM_022041.4

p.E486K

c.1456G>A

15 papers

NM_022041.4

p.R477*

c.1429C>T

14 papers

NM_022041.4

p.R15S

c.43C>A

14 papers

NM_022041.4

p.R138H

c.413G>A

14 papers

NM_022041.4

p.R293*

c.877C>T

14 papers

NM_022041.4

p.R545C

c.1633C>T

12 papers

NM_022041.4

p.S52G

c.154A>G

12 papers

NM_022041.4

p.V82F

c.244G>T

12 papers

NM_022041.4

p.R269Q

c.806G>A

11 papers

NM_022041.4

p.S79L

c.236C>T

11 papers

NM_022041.4

p.R242*

c.724C>T

11 papers

NM_022041.4

p.G332R

c.994G>A