Varaico: Literature-Extracted Genetic Variants

FGFR1

2,164 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family...

Pfam Domains

igaa 41–114UCSCImmunoglobulin domain

I-setaa 158–245UCSCImmunoglobulin I-set domain

I-setaa 257–356UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 474–750UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 1

HGNC Previous Symbols

FLT2; KAL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023110.3

p.V38V

c.114G>T

Surrounding Variants

1 paper

NM_023110.3

p.E39K

c.115G>A

1 paper

NM_023110.3

p.V38M

c.112G>A

1 paper

NM_023110.3

p.A36_P37insFs

c.107_110dup4

1 paper

NM_023110.3

p.E39D

c.117A>T

1 paper

NM_023110.3

p.V40M

c.118G>A

1 paper

NM_023110.3

p.P37R

c.110C>G

1 paper

NM_023110.3

p.V40G

c.119T>G

3 papers

NM_023110.3

p.E41K

c.121G>A

2 papers

NM_023110.3

p.A36V

c.107C>T

1 paper

NM_023110.3

p.A36P

c.106G>C

1 paper

NM_023110.3

p.A36T

c.106G>A

1 paper

NM_023110.3

p.A36fs

c.106_107fs