Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001042492.3

p.D1269insFs

c.3806_3807insC

Surrounding Variants

1 paper

NM_001042492.3

p.D1269N

c.3805G>A

2 papers

NM_001042492.3

p.D1269_S1270insFs

c.3805_3808dup4

1 paper

NM_001042492.3

p.S1270A

c.3808T>G

1 paper

NM_001042492.3

p.S1270fs

c.3808_3809fs

1 paper

NM_001042492.3

p.M1271insFs

c.3811dupA

1 paper

NM_001042492.3

p.M1271_M1285del15

c.3811_3854del45

1 paper

NM_001042492.3

p.A1268delins

c.3802_3803delinsAA

2 papers

NM_001042492.3

p.M1271fs

c.3811_3812fs

2 papers

NM_001042492.3

p.M1271L

c.3811A>C

2 papers

NM_001042492.3

p.M1271V

c.3811A>G

2 papers

NM_001042492.3

p.M1271L

c.3811A>T

3 papers

NM_001042492.3

p.M1271fs

c.3811_3812fs