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

13 papers

NM_002180.3

p.C46*

c.138T>A

Surrounding Variants

1 paper

NM_002180.3

p.C46ins4

c.136_137ins12

1 paper

NM_002180.3

p.K49*

c.145A>T

4 papers

NM_002180.3

p.R43*

c.127C>T

1 paper

NM_002180.3

p.Q51insFs

c.151_152insC

7 papers

NM_002180.3

p.Q51E

c.151C>G

1 paper

NM_002180.3

p.Q51L

c.152A>T

2 papers

NM_002180.3

p.Q41R

c.122A>G

4 papers

NM_002180.3

p.Q41*

c.121C>T

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.S53_L59del0

c.159_176del18

1 paper

NM_002180.3

p.E39fs

c.115_116fs