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

9 papers

NM_001134831.2

p.W725*

c.2175G>A

Surrounding Variants

9 papers

NM_001134831.2

p.W725*

c.2174G>A

4 papers

NM_001134831.2

p.W725R

c.2173T>C

4 papers

NM_001134831.2

p.W725R

c.2173T>A

2 papers

NM_001134831.2

p.I724delFs

c.2172delT

1 paper

NM_001134831.2

p.W725fs

c.2173_2174fs

1 paper

NM_001134831.2

p.I724M

c.2172A>G

13 papers

NM_001134831.2

p.R723Q

c.2168G>A

1 paper

NM_001134831.2

p.R723W

c.2167C>T

1 paper

NM_001134831.2

p.M729fs

c.2185_2186fs

1 paper

NM_001134831.2

p.M729L

c.2185A>C

1 paper

NM_001134831.2

p.M721I

c.2163G>T

1 paper

NM_001134831.2

p.M721I

c.2163G>C