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.Q1195*

c.3583C>T

Surrounding Variants

1 paper

NM_015120.4

p.Q1195_R1196delFs

c.3585_3586delAA

1 paper

NM_001378454.1

p.Q1194_I1200del7

c.3580_3599del21

2 papers

NM_015120.4

p.R1196_F1202del7

c.3586_3605del21

1 paper

NM_015120.4

p.Y1193*

c.3579C>A

1 paper

NM_015120.4

p.Y1193*

c.3579C>G

4 papers

NM_001378454.1

p.E1196_Y1202del7

c.3586_3605del21

1 paper

NM_015120.4

p.K1198fs

c.3592_3593fs

4 papers

NM_001378454.1

p.G1199_T1205del7

c.3595_3614del21

1 paper

NM_001378454.1

p.F1201L

c.3601T>C

1 paper

NM_015120.4

p.Q1204*

c.3610C>T

1 paper

NM_001378454.1

p.T1182I

c.3545C>T

2 papers

NM_001378454.1

p.K1181*

c.3541A>T

NM_015120.4

p.K1182*

c.3544A>T