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.I102T

c.305T>C

Surrounding Variants

1 paper

NM_022041.4

p.V106del1

c.316_317delGTT

1 paper

NM_022041.4

p.Q107insFs

c.320_321insC

1 paper

NM_022041.4

p.Q94_I95Splc

c.283-1G>A

1 paper

NM_022041.4

p.L114_T119del0

c.340_357del18

3 papers

NM_022041.4

p.F124I

c.370T>A

3 papers

NM_022041.4

p.F124C

c.371T>G

1 paper

NM_022041.4

p.G127V

c.380G>T

1 paper

NM_022041.4

p.E132insFs

c.395dupA

14 papers

NM_022041.4

p.R138H

c.413G>A

3 papers

NM_022041.4

p.R138L

c.413G>T

1 paper

NM_022041.4

p.H148L

c.443A>T

1 paper

NM_022041.4

p.H148Q

c.444C>A