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.G875Splc

c.2624-6A>G

Surrounding Variants

1 paper

NM_001134831.2

p.E876_D883insFs

c.2627_2648dup22

1 paper

NM_001134831.2

p.R891*

c.2671C>T

9 papers

NM_001134831.2

p.H896R

c.2687A>G

1 paper

NM_001134831.2

p.H896del1

c.2686_2687delATG

1 paper

NM_001134831.2

p.E899*

c.2695G>T

1 paper

NM_001134831.2

p.C905delFs

c.2713delA

1 paper

NM_001134831.2

p.C905delFs

c.2714_2715delAC

1 paper

NM_001134831.2

p.A906_F907del2

c.2716_2720del6

1 paper

NM_001134831.2

p.Q909*

c.2725C>T

2 papers

NM_001134831.2

p.N910_E911insA

c.2728_2732ins3

1 paper

NM_001134831.2

p.E911*

c.2731G>T

1 paper

NM_001134831.2

p.P912S

c.2734C>T