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.K38insFs

c.114dupA

Surrounding Variants

3 papers

NM_002180.3

p.K38delFs

c.114delA

1 paper

NM_002180.3

p.L37fs

c.109_110fs

1 paper

NM_002180.3

p.E39fs

c.115_116fs

1 paper

NM_002180.3

p.L40R

c.119T>G

5 papers

NM_002180.3

p.Q41delFs

c.121delC

1 paper

NM_002180.3

p.N34_L47delFs

c.102_139del38

4 papers

NM_002180.3

p.Q41*

c.121C>T

2 papers

NM_002180.3

p.Q41R

c.122A>G

4 papers

NM_002180.3

p.R43*

c.127C>T

1 paper

NM_002180.3

p.Q32*

c.94C>T

1 paper

NM_002180.3

p.W31*

c.93G>A

1 paper

NM_002180.3

p.C46ins4

c.136_137ins12