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.P810S

c.2428C>T

Surrounding Variants

1 paper

NM_002180.3

p.T811A

c.2431A>G

1 paper

NM_002180.3

p.P810delFs

c.2429delC

1 paper

NM_002180.3

p.P812delFs

c.2436delT

1 paper

NM_002180.3

p.A803T

c.2407G>A

1 paper

NM_002180.3

p.P818H

c.2453C>A

1 paper

NM_002180.3

p.E821*

c.2461G>T

1 paper

NM_002180.3

p.P825delFs

c.2474delC

1 paper

NM_002180.3

p.P825fs

c.2473_2474fs

4 papers

NM_002180.3

p.R790*

c.2368C>T

1 paper

NM_002180.3

p.R831delFs

c.2491_2492delAG

1 paper

NM_002180.3

p.P789fs

c.2365_2366fs

1 paper

NM_002180.3

p.P789delFs

c.2365delC