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.I389T

c.1166T>C

Surrounding Variants

1 paper

NM_015295.3

p.P387delFs

c.1161delT

1 paper

NM_015295.3

p.P387S

c.1159C>T

1 paper

NM_015295.3

p.Q396K

c.1186C>A

1 paper

NM_015295.3

p.Q396*

c.1186C>T

2 papers

NM_015295.3

p.D398N

c.1192G>A

3 papers

NM_015295.3

p.Q400L

c.1199A>T

1 paper

NM_015295.3

p.T401T

c.1203G>A

6 papers

NM_015295.3

p.D420V

c.1259A>T

5 papers

NM_015295.3

p.G425R

c.1273G>A

4 papers

NM_015295.3

p.G425R

c.1273G>C

1 paper

NM_015295.3

p.I427T

c.1280T>C

1 paper

NM_015295.3

p.R428C

c.1282C>T