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

7 papers

NM_002180.3

p.Q51E

c.151C>G

Surrounding Variants

1 paper

NM_002180.3

p.Q51L

c.152A>T

1 paper

NM_002180.3

p.Q51insFs

c.151_152insC

1 paper

NM_002180.3

p.K49*

c.145A>T

1 paper

NM_002180.3

p.S53_L59del0

c.159_176del18

1 paper

NM_002180.3

p.S54R

c.162C>A

1 paper

NM_002180.3

p.Q55*

c.163C>T

13 papers

NM_002180.3

p.C46*

c.138T>A

1 paper

NM_002180.3

p.Q55H

c.165G>C

1 paper

NM_002180.3

p.Q55H

c.165G>T

1 paper

NM_002180.3

p.R56delFs

c.166delC

1 paper

NM_002180.3

p.C46ins4

c.136_137ins12

2 papers

NM_002180.3

p.R56H

c.167G>A