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.V1550insFs

c.4648dupG

Surrounding Variants

1 paper

NM_001378454.1

p.R1549*

c.4645A>T

2 papers

NM_015120.4

p.R1550fs

c.4648_4649fs

1 paper

NM_015120.4

p.R1550insFs

c.4648dupA

1 paper

NM_015120.4

p.R1550_P1555delFs

c.4648_4664del17

1 paper

NM_015120.4

p.S1553delFs

c.4657delT

1 paper

NM_015120.4

p.S1553fs

c.4657_4658fs

1 paper

NM_001378454.1

p.T1561_I1563insFs

c.4681_4687dup7

1 paper

NM_001378454.1

p.G1562_P1564insFs

c.4684_4690dup7

1 paper

NM_001378454.1

p.L1538_L1539del2

c.4612_4616del6

2 papers

NM_015120.4

p.Y1535*

c.4605C>A

2 papers

NM_015120.4

p.Y1535*

c.4605C>G

1 paper

NM_015120.4

p.S1569Fs

c.4706_4707delinsCTCTFs