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.H148L

c.443A>T

Surrounding Variants

1 paper

NM_022041.4

p.H148Q

c.444C>A

1 paper

NM_022041.4

p.H148Q

c.444C>G

1 paper

NM_022041.4

p.L152insFs

c.456dupT

1 paper

NM_022041.4

p.L152F

c.454C>T

1 paper

NM_022041.4

p.A153fs

c.457_458fs

14 papers

NM_022041.4

p.R138H

c.413G>A

3 papers

NM_022041.4

p.R138L

c.413G>T

5 papers

NM_022041.4

p.R162*

c.484C>T

1 paper

NM_022041.4

p.E132insFs

c.395dupA

1 paper

NM_022041.4

p.E168K

c.502G>A

8 papers

NM_022041.4

p.E169K

c.505G>A

1 paper

NM_022041.4

p.G127V

c.380G>T