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.S1236T

c.3706T>A

Surrounding Variants

1 paper

NM_001378454.1

p.Y1239_S1240delFs

c.3715_3718del4

3 papers

NM_001378454.1

p.Y1239_S1240delFs

c.3716_3719del4

3 papers

NM_001378454.1

p.S1240fs

c.3718_3719fs

1 paper

NM_015120.4

p.T1243_K1245del3

c.3727_3734del9

1 paper

NM_001378454.1

p.T1242A

c.3724A>G

2 papers

NM_015120.4

p.T1243S

c.3727A>T

1 paper

NM_015120.4

p.E1244_K1245delFs

c.3732_3733delGA

1 paper

NM_015120.4

p.T1230_P1233del4

c.3688_3698del12

1 paper

NM_001378454.1

p.T1229_G1230del2

c.3685_3689del6

1 paper

NM_001378454.1

p.K1244_P1245delFs

c.3732_3733delGC

1 paper

NM_001378454.1

p.Q1251delFs

c.3751_3752delCA

1 paper

NM_015120.4

p.Q1252*

c.3754C>T