Varaico: Literature-Extracted Genetic Variants

SMCHD1

223 papers

RefSeq Summary

This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011].

Pfam Domains

HATPase_c_3aa 139–295UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

SMCHD1_S5aa 397–569UCSCSMCHD1, ribosomal S5 domain 2-like domain

Ig_SMCHD1_1staa 690–820UCSCSMCHD1 Ig-like domain 1

Ig_SMCHD1_2ndaa 826–922UCSCSMCHD1 Ig-like domain 2

Ig_SMCHD1_4thaa 930–1032UCSCSMCHD1 Ig-like domain 4

Ig_SMCHD1_5thaa 1037–1143UCSCSMCHD1 Ig-like domain 5

Gene Aliases

HGNC Name

structural maintenance of chromosomes flexible hinge domain containing 1

HGNC Alias Symbols

KIAA0650; FSHD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015295.3

p.I715fs

c.2143_2144fs

Surrounding Variants

1 paper

NM_015295.3

p.P714R

c.2141C>G

1 paper

NM_015295.3

p.G716Splc

c.2146+1G>A

1 paper

NM_015295.3

p.G716Splc

c.2146+2T>C

1 paper

NM_015295.3

p.P714insFs

c.2141dupC

2 papers

NM_015295.3

p.A711fs

c.2131_2132fs

2 papers

NM_015295.3

p.P710insFs

c.2129dupC

5 papers

NM_015295.3

p.V708I

c.2122G>A

1 paper

NM_015295.3

p.E702*

c.2104G>T

1 paper

NM_015295.3

p.D691_R692delFs

c.2071_2075del5

10 papers

NM_015295.3

p.P690S

c.2068C>T

1 paper

NM_015295.3

p.I720M

c.2160T>G

1 paper

NM_015295.3

p.N724K

c.2172T>A