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.G586C

c.1756G>T

Surrounding Variants

1 paper

NM_002180.3

p.G586D

c.1757G>A

1 paper

NM_002180.3

p.G586Splc

c.1756+4C>T

5 papers

NM_002180.3

p.N583I

c.1748A>T

1 paper

NM_002180.3

p.R581S

c.1743A>C

1 paper

NM_002180.3

p.R581S

c.1743A>T

14 papers

NM_002180.3

p.V580I

c.1738G>A

7 papers

NM_002180.3

p.F579L

c.1737C>A

4 papers

NM_002180.3

p.F579L

c.1737C>G

4 papers

NM_002180.3

p.F579L

c.1735T>C

11 papers

NM_002180.3

p.L577P

c.1730T>C

2 papers

NM_002180.3

p.L577R

c.1730T>G

1 paper

NM_002180.3

p.V575V

c.1725G>T