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

1 paper

NM_001042492.3

p.H1251R

c.3752A>G

Surrounding Variants

1 paper

NM_001042492.3

p.H1251P

c.3752A>C

1 paper

NM_001042492.3

p.L1252delFs

c.3755delT

1 paper

NM_001042492.3

p.H1251fs

c.3751_3752fs

1 paper

NM_001042492.3

p.L1252_L1253del2

c.3754_3758del6

1 paper

NM_001042492.3

p.L1252fs

c.3754_3755fs

2 papers

NM_001042492.3

p.L1253_Y1254delFs

c.3758_3762del5

5 papers

NM_001042492.3

p.R1250Q

c.3749G>A

4 papers

NM_001042492.3

p.R1250P

c.3749G>C

1 paper

NM_001042492.3

p.R1250L

c.3749G>T

2 papers

NM_001042492.3

p.L1253_Q1255delFs

c.3757_3764del8

2 papers

NM_001042492.3

p.R1250R

c.3748C>A

1 paper

NM_001042492.3

p.R1250_H1251insTT

c.3748_3752ins6