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

3 papers

NM_001042492.3

p.C1367F

c.4100G>T

Surrounding Variants

1 paper

NM_001042492.3

p.C1367Y

c.4100G>A

1 paper

NM_001042492.3

p.C1367_L1368del1

c.4101_4103delTTT

2 papers

NM_001042492.3

p.C1367*

c.4101T>A

4 papers

NM_001042492.3

p.C1367R

c.4099T>C

2 papers

NM_001042492.3

p.H1366Q

c.4098C>A

1 paper

NM_001042492.3

p.C1367_L1368insFs

c.4100_4103dup4

2 papers

NM_001042492.3

p.H1366Q

c.4098C>G

1 paper

NM_001042492.3

p.Y1369insFs

c.4106_4107insTA

1 paper

NM_001042492.3

p.L1368fs

c.4102_4103fs

1 paper

NM_001042492.3

p.H1366R

c.4097A>G

1 paper

NM_001042492.3

p.H1366L

c.4097A>T

5 papers

NM_001042492.3

p.L1368*

c.4103T>A