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.D438fs

c.1312_1313fs

Surrounding Variants

2 papers

NM_001134831.2

p.D438insFs

c.1312_1313insG

2 papers

NM_001134831.2

p.R435Q

c.1304G>A

8 papers

NM_001134831.2

p.R435*

c.1303C>T

1 paper

NM_001134831.2

p.P441S

c.1321C>T

1 paper

NM_001134831.2

p.S440delFs

c.1320delA

1 paper

NM_001134831.2

p.V443F

c.1327G>T

1 paper

NM_001134831.2

p.V443I

c.1327G>A

1 paper

NM_001134831.2

p.K442delFs

c.1326delT

1 paper

NM_001134831.2

p.V443fs

c.1327_1328fs

27 papers

NM_001134831.2

p.V443D

c.1328T>A

1 paper

NM_001134831.2

p.I444F

c.1330A>T

1 paper

NM_001134831.2

p.P431P

c.1293C>T