Varaico: Literature-Extracted Genetic Variants

ASPH

175 papers

RefSeq Summary

This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying ...

Pfam Domains

Asp-B-Hydro_Naa 43–108UCSCAspartyl beta-hydroxylase N-terminal region

TPR_16aa 345–394UCSCTetratricopeptide repeat

Asp_Arg_Hydroxaa 591–745UCSCAspartyl/Asparaginyl beta-hydroxylase

Gene Aliases

HGNC Name

aspartate beta-hydroxylase

HGNC Alias Symbols

CASQ2BP1; BAH; JCTN; HAAH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004318.4

p.G518R

c.1552G>C

Surrounding Variants

1 paper

NM_004318.4

p.G518R

c.1552G>A

1 paper

NM_004318.4

p.S517F

c.1550C>T

1 paper

NM_004318.4

p.A534V

c.1601C>T

1 paper

NM_004318.4

p.E542E

c.1626G>A

1 paper

NM_004318.4

p.P509S

c.1525C>T

1 paper

NM_004318.4

p.K499_A500delFs

c.1497_1500del4

1 paper

NM_004318.4

p.A500V

c.1499C>T

1 paper

NM_004318.4

p.K499fs

c.1495_1496fs

1 paper

NM_004318.4

p.V492A

c.1475T>C

1 paper

NM_004318.4

p.G488D

c.1463G>A

1 paper

NM_004318.4

p.T484A

c.1450A>G

2 papers

NM_004318.4

p.Y544*

c.1632T>G