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.A140fs

c.418_419fs

Surrounding Variants

1 paper

NM_002180.3

p.N141D

c.421A>G

1 paper

NM_002180.3

p.K138E

c.412A>G

1 paper

NM_002180.3

p.V143V

c.429C>T

1 paper

NM_002180.3

p.L136delFs

c.407_408delTG

1 paper

NM_002180.3

p.R135R

c.405A>G

1 paper

NM_002180.3

p.Y145C

c.434A>G

9 papers

NM_002180.3

p.R147*

c.439C>T

4 papers

NM_002180.3

p.K150fs

c.448_449fs

4 papers

NM_002180.3

p.R130*

c.388C>T

1 paper

NM_002180.3

p.D129E

c.387C>A

1 paper

NM_002180.3

p.D129E

c.387C>G

6 papers

NM_002180.3

p.K150Splc

c.449+1G>T