Varaico: Literature-Extracted Genetic Variants

ALMS1

603 papers

RefSeq Summary

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formati...

Pfam Domains

ALMS_repeataa 539–585UCSCAlstrom syndrome repeat

ALMS_repeataa 586–632UCSCAlstrom syndrome repeat

ALMS_repeataa 633–679UCSCAlstrom syndrome repeat

ALMS_repeataa 680–726UCSCAlstrom syndrome repeat

ALMS_repeataa 727–774UCSCAlstrom syndrome repeat

ALMS_repeataa 775–821UCSCAlstrom syndrome repeat

Gene Aliases

HGNC Name

ALMS1 centrosome and basal body associated protein

HGNC Alias Symbol

KIAA0328

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378454.1

p.S808C

c.2423C>G

Surrounding Variants

1 paper

NM_001378454.1

p.Y811_Q822insFs

c.2431_2465dup35

1 paper

NM_001378454.1

p.A810insFs

c.2430dupA

1 paper

NM_015120.4

p.A811G

c.2432C>G

1 paper

NM_001378454.1

p.Y811fs

c.2431_2432fs

1 paper

NM_001378454.1

p.T805_S809del5

c.2413_2426del15

1 paper

NM_001378454.1

p.S812fs

c.2434_2435fs

2 papers

NM_015120.4

p.S813*

c.2438C>A

2 papers

NM_015120.4

p.S813*

c.2438C>G

1 paper

NM_001378454.1

p.P804T

c.2410C>A

1 paper

NM_001378454.1

p.R814I

c.2441G>T

1 paper

NM_015120.4

p.K801_T802delFs

c.2403_2404delGA

1 paper

NM_015120.4

p.L818F

c.2452C>T