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.L526_E527del1

c.1577_1579delTAG

Surrounding Variants

1 paper

NM_015120.4

p.P526fs

c.1576_1577fs

1 paper

NM_001378454.1

p.E527insFs

c.1581dupA

2 papers

NM_001378454.1

p.E527ins1

c.1579_1580insCTC

1 paper

NM_015120.4

p.E528*

c.1582G>T

1 paper

NM_001378454.1

p.S524C

c.1571C>G

2 papers

NM_001378454.1

p.S524P

c.1570T>C

1 paper

NM_015120.4

p.S525insFs

c.1574dupC

12 papers

NM_001378454.1

p.S524_P525ins0

c.1571_1573dupCTC

6 papers

NM_001378454.1

p.P525del1

c.1573_1574delCCT

1 paper

NM_001378454.1

p.S523_S524insFs

c.1569_1570insGC

1 paper

NM_001378454.1

p.S524insFs

c.1570_1571insCT

1 paper

NM_001378454.1

p.S524ins1

c.1571_1572insCTC