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

2 papers

NM_015295.3

p.G188R

c.562G>C

Surrounding Variants

2 papers

NM_015295.3

p.G188R

c.562G>A

3 papers

NM_015295.3

p.M189V

c.565A>G

1 paper

NM_015295.3

p.T190P

c.568A>C

1 paper

NM_015295.3

p.G186_R187ins4

c.556_560ins12

1 paper

NM_015295.3

p.I183M

c.549A>G

1 paper

NM_015295.3

p.I183delFs

c.549delA

1 paper

NM_015295.3

p.Q193fs

c.577_578fs

7 papers

NM_015295.3

p.Q193P

c.578A>C

1 paper

NM_015295.3

p.L194insFs

c.582dupT

6 papers

NM_015295.3

p.L194F

c.580C>T

1 paper

NM_015295.3

p.A179T

c.535G>A

1 paper

NM_015295.3

p.K177R

c.530A>G