Varaico: Literature-Extracted Genetic Variants

AHI1

492 papers

RefSeq Summary

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a rece...

Pfam Domains

WD40aa 644–682UCSCWD domain, G-beta repeat

WD40aa 688–726UCSCWD domain, G-beta repeat

WD40aa 735–772UCSCWD domain, G-beta repeat

WD40aa 846–871UCSCWD domain, G-beta repeat

SH3_1aa 1057–1103UCSCSH3 domain

Gene Aliases

HGNC Name

Abelson helper integration site 1

HGNC Alias Symbols

FLJ20069; ORF1; JBTS3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001134831.2

p.Q278*

c.832C>T

Surrounding Variants

1 paper

NM_001134831.2

p.Q278insFs

c.834dupA

2 papers

NM_001134831.2

p.E281*

c.841G>T

1 paper

NM_001134831.2

p.D275H

c.823G>C

1 paper

NM_001134831.2

p.S284T

c.850T>A

1 paper

NM_001134831.2

p.R270*

c.808A>T

1 paper

NM_001134831.2

p.M285_E286del2

c.853_857del6

1 paper

NM_001134831.2

p.S268S

c.804A>C

1 paper

NM_001134831.2

p.S288C

c.862A>T

1 paper

NM_001134831.2

p.S288R

c.862A>C

1 paper

NM_001134831.2

p.S288R

c.864C>G

1 paper

NM_001134831.2

p.S288R

c.864C>A

1 paper

NM_001134831.2

p.T289I

c.866C>T