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.D2674fs

c.8020_8021fs

Surrounding Variants

2 papers

NM_001378454.1

p.D2673H

c.8017G>C

1 paper

NM_015120.4

p.F2673_D2674insFs

c.8019_8020ins7

1 paper

NM_001378454.1

p.E2674Q

c.8020G>C

4 papers

NM_001378454.1

p.R2669*

c.8005C>T

NM_015120.4

p.R2670*

c.8008C>T

2 papers

NM_015120.4

p.L2669F

c.8005C>T

NM_001378454.1

p.L2668F

c.8002C>T

1 paper

NM_001378454.1

p.P2678S

c.8032C>T

1 paper

NM_015120.4

p.W2680*

c.8039G>A

1 paper

NM_015120.4

p.W2680*

c.8040G>A

2 papers

NM_001378454.1

p.S2681*

c.8042C>A

NM_015120.4

p.S2682*

c.8045C>A

3 papers

NM_001378454.1

p.S2681*

c.8042C>G

NM_015120.4

p.S2682*

c.8045C>G

1 paper

NM_001378454.1

p.P2659R

c.7976C>G

1 paper

NM_001378454.1

p.F2688C

c.8063T>G