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

6 papers

NM_002180.3

p.W386R

c.1156T>C

Surrounding Variants

5 papers

NM_002180.3

p.W386R

c.1156T>A

1 paper

NM_002180.3

p.L389delFs

c.1165delC

1 paper

NM_002180.3

p.A383V

c.1148C>T

1 paper

NM_002180.3

p.L389P

c.1166T>C

8 papers

NM_002180.3

p.E382K

c.1144G>A

1 paper

NM_002180.3

p.R393K

c.1178G>A

1 paper

NM_002180.3

p.A378T

c.1132G>A

1 paper

NM_002180.3

p.A378fs

c.1132_1133fs

2 papers

NM_002180.3

p.C377Y

c.1130G>A

1 paper

NM_002180.3

p.C377R

c.1129T>C

1 paper

NM_002180.3

p.C395R

c.1183T>C

2 papers

NM_002180.3

p.E376K

c.1126G>A