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.D517N

c.1549G>A

Surrounding Variants

4 papers

NM_015295.3

p.K518E

c.1552A>G

2 papers

NM_015295.3

p.F519S

c.1556T>C

1 paper

NM_015295.3

p.V521F

c.1561G>T

1 paper

NM_015295.3

p.S522N

c.1565G>A

5 papers

NM_015295.3

p.T523K

c.1568C>A

1 paper

NM_015295.3

p.S510F

c.1529C>T

1 paper

NM_015295.3

p.S510_G511insFs

c.1529_1533dup5

5 papers

NM_015295.3

p.N524S

c.1571A>G

11 papers

NM_015295.3

p.T527M

c.1580C>T

1 paper

NM_015295.3

p.Y506F

c.1517A>T

1 paper

NM_015295.3

p.E532*

c.1594G>T

1 paper

NM_015295.3

p.L535F

c.1605G>C