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.P402fs

c.1204_1205fs

Surrounding Variants

2 papers

NM_001134831.2

p.P402delFs

c.1205delG

1 paper

NM_001134831.2

p.P402fs

c.1204_1205fs

1 paper

NM_001134831.2

p.P402S

c.1204C>T

1 paper

NM_001134831.2

p.Y399delFs

c.1196delT

1 paper

NM_001134831.2

p.Y399C

c.1196A>G

1 paper

NM_001134831.2

p.Q406delFs

c.1216_1217delTG

1 paper

NM_001134831.2

p.E395_N396delFs

c.1185_1186delTC

1 paper

NM_001134831.2

p.N396fs

c.1186_1187fs

1 paper

NM_001134831.2

p.E395fs

c.1183_1184fs

1 paper

NM_001134831.2

p.K394ins12

c.1181_1182ins36

1 paper

NM_001134831.2

p.Q412*

c.1234C>T

1 paper

NM_001134831.2

p.E393K

c.1177G>A