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.C474F

c.1421G>T

Surrounding Variants

2 papers

NM_015295.3

p.E473G

c.1418A>G

3 papers

NM_015295.3

p.E473V

c.1418A>T

7 papers

NM_015295.3

p.E473Q

c.1417G>C

1 paper

NM_015295.3

p.I471I

c.1413T>C

7 papers

NM_015295.3

p.G478E

c.1433G>A

2 papers

NM_015295.3

p.R479*

c.1435C>T

2 papers

NM_015295.3

p.R479Q

c.1436G>A

6 papers

NM_015295.3

p.R479P

c.1436G>C

2 papers

NM_015295.3

p.R479L

c.1436G>T

1 paper

NM_015295.3

p.A464E

c.1391C>A

1 paper

NM_015295.3

p.L461delFs

c.1381delC

1 paper

NM_015295.3

p.D488Splc

c.1463+5G>A