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

3 papers

NM_022041.4

p.E362_A363Splc

c.1086+1G>C

Surrounding Variants

1 paper

NM_022041.4

p.E362_A363Splc

c.1086+1G>A

3 papers

NM_022041.4

p.E362E

c.1086G>A

1 paper

NM_022041.4

p.E362G

c.1085A>G

1 paper

NM_022041.4

p.E362K

c.1084G>A

1 paper

NM_022041.4

p.N352S

c.1055A>G

1 paper

NM_022041.4

p.K346N

c.1038G>C

1 paper

NM_022041.4

p.K346N

c.1038G>T

1 paper

NM_022041.4

p.S343*

c.1028C>A

1 paper

NM_022041.4

p.S343*

c.1028C>G

2 papers

NM_022041.4

p.E362_A363Splc

c.1086+71C>T

5 papers

NM_022041.4

p.K338*

c.1012A>T

1 paper

NM_022041.4

p.E336*

c.1006G>T