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

2 papers

NM_015120.4

p.Y1535*

c.4605C>G

Surrounding Variants

2 papers

NM_015120.4

p.Y1535*

c.4605C>A

1 paper

NM_001378454.1

p.L1538_L1539del2

c.4612_4616del6

1 paper

NM_001378454.1

p.K1529_I1543del15

c.4585_4628del45

1 paper

NM_015120.4

p.A1529_Q1543del15

c.4585_4628del45

1 paper

NM_015120.4

p.Q1526*

c.4576C>T

1 paper

NM_001378454.1

p.Q1525_L1539del15

c.4573_4616del45

1 paper

NM_001378454.1

p.S1524insFs

c.4571dupC

1 paper

NM_001378454.1

p.Q1525_A1537del13

c.4573_4610del39

1 paper

NM_015120.4

p.Y1524*

c.4572C>A

1 paper

NM_015120.4

p.Y1524*

c.4572C>G

1 paper

NM_015120.4

p.S1525_L1539del15

c.4573_4616del45

1 paper

NM_001378454.1

p.Y1523_S1524del2

c.4567_4571del6