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

3 papers

NM_015120.4

p.E1493*

c.4477G>T

NM_001378454.1

p.E1492*

c.4474G>T

Surrounding Variants

1 paper

NM_001378454.1

p.L1495V

c.4483C>G

1 paper

NM_001378454.1

p.G1507_T1519del13

c.4519_4556del39

1 paper

NM_001378454.1

p.S1473_P1474Fs

c.4417_4420delinsGCCTACAAFs

1 paper

NM_001378454.1

p.T1512I

c.4535C>T

1 paper

NM_001378454.1

p.G1467V

c.4400G>T

1 paper

NM_015120.4

p.I1467_G1468insA

c.4399_4403ins3

1 paper

NM_015120.4

p.Q1465*

c.4393C>T

1 paper

NM_015120.4

p.S1523insFs

c.4569dupC

1 paper

NM_001378454.1

p.Y1523_S1524del2

c.4567_4571del6

1 paper

NM_015120.4

p.Y1524*

c.4572C>A

1 paper

NM_015120.4

p.Y1524*

c.4572C>G

1 paper

NM_015120.4

p.S1525_L1539del15

c.4573_4616del45