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_015120.4

p.Q1384insFs

c.4150dupC

Surrounding Variants

1 paper

NM_001378454.1

p.S1382S

c.4146A>G

2 papers

NM_001378454.1

p.S1382*

c.4145C>A

NM_015120.4

p.S1383*

c.4148C>A

2 papers

NM_001378454.1

p.S1382*

c.4145C>G

NM_015120.4

p.S1383*

c.4148C>G

1 paper

NM_015120.4

p.Q1384fs

c.4150_4151fs

2 papers

NM_015120.4

p.S1383fs

c.4147_4148fs

2 papers

NM_001378454.1

p.H1384insFs

c.4150dupC

1 paper

NM_015120.4

p.H1385R

c.4154A>G

1 paper

NM_015120.4

p.Y1382fs

c.4144_4145fs

3 papers

NM_015120.4

p.S1383_Q1384delFs

c.4147_4150del4

7 papers

NM_015120.4

p.T1386insFs

c.4156dupA

1 paper

NM_001378454.1

p.T1385_Q1393del9

c.4153_4178del27

2 papers

NM_015120.4

p.T1386fs

c.4156_4157fs