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.N104S

c.311A>G

Surrounding Variants

1 paper

NM_015295.3

p.S102L

c.305C>T

5 papers

NM_015295.3

p.L107P

c.320T>C

1 paper

NM_015295.3

p.L108P

c.323T>C

1 paper

NM_015295.3

p.L108R

c.323T>G

4 papers

NM_015295.3

p.A110T

c.328G>A

1 paper

NM_015295.3

p.T111M

c.332C>T

1 paper

NM_015295.3

p.K112I

c.335A>T

1 paper

NM_015295.3

p.T96_L97del2

c.286_290del6

1 paper

NM_015295.3

p.R114_I115insC

c.340_344ins3

1 paper

NM_015295.3

p.I115L

c.343A>C

1 paper

NM_015295.3

p.D93E

c.279T>A

1 paper

NM_015295.3

p.D93E

c.279T>G