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.E1455*

c.4363G>T

Surrounding Variants

1 paper

NM_015120.4

p.V1456F

c.4366G>T

1 paper

NM_001378454.1

p.A1458_P1459del2

c.4372_4376del6

1 paper

NM_001378454.1

p.E1450_E1451insCTC

c.4348_4352ins9

1 paper

NM_001378454.1

p.H1445L

c.4334A>T

1 paper

NM_001378454.1

p.H1445Y

c.4333C>T

1 paper

NM_015120.4

p.Q1465*

c.4393C>T

1 paper

NM_015120.4

p.I1467_G1468insA

c.4399_4403ins3

1 paper

NM_001378454.1

p.G1467V

c.4400G>T

1 paper

NM_015120.4

p.Q1441*

c.4321C>T

1 paper

NM_001378454.1

p.Y1439_Q1440insR

c.4315_4319ins3

2 papers

NM_001378454.1

p.G1436delins

c.4306_4307delinsGT

1 paper

NM_001378454.1

p.S1473_P1474Fs

c.4417_4420delinsGCCTACAAFs