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

1–12 of 684 variants

31 papers

NM_001134831.2

p.R830W

c.2488C>T

27 papers

NM_001134831.2

p.V443D

c.1328T>A

16 papers

NM_001134831.2

p.E1086G

c.3257A>G

14 papers

NM_001134831.2

p.T304insFs

c.910dupA

13 papers

NM_001134831.2

p.R723Q

c.2168G>A

13 papers

NM_001134831.2

p.R738*

c.2212C>T

13 papers

NM_001134831.2

p.S1123F

c.3368C>T

12 papers

NM_001134831.2

p.R351*

c.1051C>T

9 papers

NM_001134831.2

p.W725*

c.2174G>A

9 papers

NM_001134831.2

p.W725*

c.2175G>A

9 papers

NM_001134831.2

p.H896R

c.2687A>G

8 papers

NM_001134831.2

p.Q263insFs

c.787dupC