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.E2611*

c.7831G>T

Surrounding Variants

1 paper

NM_001378454.1

p.S2606C

c.7817C>G

1 paper

NM_001378454.1

p.R2616W

c.7846C>T

1 paper

NM_001378454.1

p.C2622Y

c.7865G>A

1 paper

NM_015120.4

p.R2600fs

c.7798_7799fs

1 paper

NM_001378454.1

p.D2598_R2599insT

c.7792_7796ins3

1 paper

NM_015120.4

p.D2599_R2600delFs

c.7797_7800del4

1 paper

NM_001378454.1

p.K2625R

c.7874A>G

1 paper

NM_015120.4

p.H2627_V2628insFs

c.7881_7882ins4

1 paper

NM_001378454.1

p.P2595S

c.7783C>T

4 papers

NM_001378454.1

p.T2591insFs

c.7771_7772insT

1 paper

NM_015120.4

p.T2592fs

c.7774_7775fs

2 papers

NM_015120.4

p.L2591insFs

c.7772dupT