Varaico: Literature-Extracted Genetic Variants

UNC45A

74 papers

RefSeq Summary

This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded p...

Pfam Domains

TPR_16aa 25–92UCSCTetratricopeptide repeat

TPR_8aa 92–125UCSCTetratricopeptide repeat

UNC45-centralaa 313–530UCSCMyosin-binding striated muscle assembly central

Gene Aliases

HGNC Name

unc-45 myosin chaperone A

HGNC Alias Symbols

SMAP-1; GC-UNC45

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018671.5

p.R579_L580Splc

c.1738-1G>T

Surrounding Variants

1 paper

NM_018671.5

p.D601N

c.1801G>A

1 paper

NM_018671.5

p.L571P

c.1712T>C

1 paper

NM_018671.5

p.E566K

c.1696G>A

1 paper

NM_001039675.2

p.F549fs

c.1645_1646fs

1 paper

NM_001039675.2

p.F549delFs

c.1646_1647delTT

1 paper

NM_018671.5

p.R545C

c.1633C>T

1 paper

NM_018671.5

p.T543I

c.1628C>T

1 paper

NM_001039675.2

p.D525fs

c.1573_1574fs

1 paper

NM_001039675.2

p.I524_D525insFs

c.1572_1573insAT

2 papers

NM_018671.5

p.R633W

c.1897C>T

1 paper

NM_018671.5

p.R635W

c.1903C>T

1 paper

NM_018671.5

p.V645L

c.1933G>C