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.L361P

c.1082T>C

Surrounding Variants

1 paper

NM_002180.3

p.K362insFs

c.1085dupA

1 paper

NM_002180.3

p.P360A

c.1078C>G

1 paper

NM_002180.3

p.L364L

c.1090C>T

1 paper

NM_002180.3

p.L364P

c.1091T>C

1 paper

NM_002180.3

p.P365del1

c.1093_1095delCCC

1 paper

NM_002180.3

p.P365L

c.1094C>T

1 paper

NM_002180.3

p.A357P

c.1069G>C

1 paper

NM_002180.3

p.E366K

c.1096G>A

1 paper

NM_002180.3

p.E366*

c.1096G>T

1 paper

NM_002180.3

p.A355V

c.1064C>T

1 paper

NM_002180.3

p.A355T

c.1063G>A

2 papers

NM_002180.3

p.G354D

c.1061G>A