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.A1173G

c.3518C>G

Surrounding Variants

1 paper

NM_015120.4

p.S1173*

c.3518C>A

1 paper

NM_015120.4

p.S1173*

c.3518C>G

1 paper

NM_015120.4

p.E1168_A1169ins14

c.3502_3506ins42

2 papers

NM_001378454.1

p.K1181*

c.3541A>T

NM_015120.4

p.K1182*

c.3544A>T

1 paper

NM_001378454.1

p.T1182I

c.3545C>T

2 papers

NM_015120.4

p.Q1158*

c.3472C>T

1 paper

NM_015120.4

p.Q1157*

c.3469C>T

1 paper

NM_001378454.1

p.H1155D

c.3463C>G

2 papers

NM_015120.4

p.H1156Y

c.3466C>T

1 paper

NM_015120.4

p.Y1193*

c.3579C>A

1 paper

NM_015120.4

p.Y1193*

c.3579C>G

1 paper

NM_001378454.1

p.Q1194_I1200del7

c.3580_3599del21