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.L169_L170Splc

c.507+1G>T

Surrounding Variants

1 paper

NM_015295.3

p.A155D

c.464C>A

1 paper

NM_015295.3

p.S152insFs

c.455_456insC

3 papers

NM_015295.3

p.D150H

c.448G>C

7 papers

NM_015295.3

p.E147A

c.440A>C

4 papers

NM_015295.3

p.F171V

c.511T>G

1 paper

NM_015295.3

p.K177R

c.530A>G

1 paper

NM_015295.3

p.A179T

c.535G>A

1 paper

NM_015295.3

p.I183delFs

c.549delA

1 paper

NM_015295.3

p.I183M

c.549A>G

1 paper

NM_015295.3

p.G186_R187ins4

c.556_560ins12

2 papers

NM_015295.3

p.G188R

c.562G>A

2 papers

NM_015295.3

p.G188R

c.562G>C