Varaico: Literature-Extracted Genetic Variants

IGHMBP2

353 papers

RefSeq Summary

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory...

Pfam Domains

SMUBP-2_HCS1_1Baa 10–139UCSCHelicase SMUBP-2/HCS1, 1B domain

AAA_11aa 191–411UCSCAAA domain

AAA_12aa 418–615UCSCAAA domain

R3Haa 726–784UCSCR3H domain

zf-AN1aa 897–937UCSCAN1-like Zinc finger

Gene Aliases

HGNC Name

immunoglobulin mu DNA binding protein 2

HGNC Alias Symbols

ZFAND7; SMUBP2; CATF1; SMARD1; HCSA; HMN6; CMT2S

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002180.3

p.S711R

c.2131A>C

Surrounding Variants

1 paper

NM_002180.3

p.S711R

c.2133C>A

1 paper

NM_002180.3

p.S711R

c.2133C>G

1 paper

NM_002180.3

p.Q709*

c.2125C>T

1 paper

NM_002180.3

p.A703ins1

c.2107_2108insAGG

1 paper

NM_002180.3

p.Q723*

c.2167C>T

3 papers

NM_002180.3

p.V726M

c.2176G>A

2 papers

NM_002180.3

p.K695*

c.2083A>T

7 papers

NM_002180.3

p.R694W

c.2080C>T

1 paper

NM_002180.3

p.A731A

c.2193C>T

2 papers

NM_002180.3

p.S739delFs

c.2215delA

3 papers

NM_002180.3

p.S739fs

c.2215_2216fs

1 paper

NM_002180.3

p.G683fs

c.2047_2048fs