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.Y1051*

c.3153C>A

Surrounding Variants

1 paper

NM_015120.4

p.Y1051*

c.3153C>G

1 paper

NM_001378454.1

p.Q1052*

c.3154C>T

1 paper

NM_015120.4

p.E1055insFs

c.3163dupG

1 paper

NM_015120.4

p.S1049_Y1051del3

c.3145_3152del9

1 paper

NM_015120.4

p.E1055fs

c.3163_3164fs

1 paper

NM_001378454.1

p.K1055insFs

c.3163dupA

1 paper

NM_001378454.1

p.Q1046*

c.3136C>T

1 paper

NM_001378454.1

p.L1059insFs

c.3176_3177insA

1 paper

NM_001378454.1

p.P1061S

c.3181C>T

1 paper

NM_001378454.1

p.T1031delFs

c.3092delC

1 paper

NM_015120.4

p.S1074delFs

c.3220_3221delAG

1 paper

NM_001378454.1

p.L1074delFs

c.3221_3222delTG