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

1 paper

NM_001134831.2

p.T297insFs

c.891dupA

Surrounding Variants

1 paper

NM_001134831.2

p.K300R

c.899A>G

1 paper

NM_001134831.2

p.K303Q

c.907A>C

6 papers

NM_001134831.2

p.T304fs

c.910_911fs

1 paper

NM_001134831.2

p.M293I

c.879G>T

1 paper

NM_001134831.2

p.M293I

c.879G>C

1 paper

NM_001134831.2

p.M293I

c.879G>A

14 papers

NM_001134831.2

p.T304insFs

c.910dupA

1 paper

NM_001134831.2

p.T304K

c.911C>A

1 paper

NM_001134831.2

p.T304delFs

c.910delT

1 paper

NM_001134831.2

p.K302_K303delFs

c.906_907delTT

2 papers

NM_001134831.2

p.T304insFs

c.911dupC

7 papers

NM_001134831.2

p.T304fs

c.910_911fs