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

1–12 of 466 variants

11 papers

NM_015295.3

p.T527M

c.1580C>T

10 papers

NM_015295.3

p.G137E

c.410G>A

10 papers

NM_015295.3

p.P690S

c.2068C>T

9 papers

NM_015295.3

p.H348R

c.1043A>G

9 papers

NM_015295.3

p.Y353C

c.1058A>G

8 papers

NM_015295.3

p.N139H

c.415A>C

7 papers

NM_015295.3

p.S135C

c.403A>T

7 papers

NM_015295.3

p.S135N

c.404G>A

7 papers

NM_015295.3

p.E136G

c.407A>G

7 papers

NM_015295.3

p.E147A

c.440A>C

7 papers

NM_015295.3

p.Q193P

c.578A>C

7 papers

NM_015295.3

p.E473Q

c.1417G>C