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.S2575N

c.7724G>A

Surrounding Variants

7 papers

NM_001378454.1

p.C2574Y

c.7721G>A

1 paper

NM_015120.4

p.I2580F

c.7738A>T

1 paper

NM_015120.4

p.E2572delFs

c.7716delA

1 paper

NM_001378454.1

p.C2568F

c.7703G>T

1 paper

NM_015120.4

p.C2587delFs

c.7760delG

1 paper

NM_015120.4

p.C2587fs

c.7759_7760fs

1 paper

NM_015120.4

p.P2564R

c.7691C>G

1 paper

NM_015120.4

p.R2589W

c.7765C>T

2 papers

NM_015120.4

p.L2591insFs

c.7772dupT

4 papers

NM_001378454.1

p.T2591insFs

c.7771_7772insT

1 paper

NM_015120.4

p.T2592fs

c.7774_7775fs

1 paper

NM_015120.4

p.G2560fs

c.7678_7679fs