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

11 papers

NM_022041.4

p.R242*

c.724C>T

Surrounding Variants

1 paper

NM_022041.4

p.L240*

c.719T>A

1 paper

NM_022041.4

p.L240*

c.719T>G

1 paper

NM_022041.4

p.I244fs

c.730_731fs

2 papers

NM_022041.4

p.I244V

c.730A>G

2 papers

NM_022041.4

p.I244delFs

c.732delT

2 papers

NM_022041.4

p.I244fs

c.730_731fs

1 paper

NM_022041.4

p.L253F

c.757C>T

1 paper

NM_022041.4

p.S254C

c.760A>T

1 paper

NM_022041.4

p.S254N

c.761G>A

1 paper

NM_022041.4

p.S228Y

c.683C>A

1 paper

NM_022041.4

p.S228A

c.682T>G

1 paper

NM_022041.4

p.P256L

c.767C>T