Varaico: Literature-Extracted Genetic Variants

NBPF20

35 papers

RefSeq Summary

This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene f...

Pfam Domains

Olduvaiaa 176–240UCSCOlduvai domain

Olduvaiaa 262–326UCSCOlduvai domain

Olduvaiaa 334–401UCSCOlduvai domain

Olduvaiaa 409–476UCSCOlduvai domain

Olduvaiaa 484–551UCSCOlduvai domain

Olduvaiaa 578–645UCSCOlduvai domain

Gene Aliases

HGNC Name

NBPF member 20

HGNC Previous Name

neuroblastoma breakpoint family, member 20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001397211.1

p.L66V

c.196C>G

Surrounding Variants

1 paper

NM_001397211.1

p.K59N

c.177A>T

1 paper

NM_001397211.1

p.K59N

c.177A>C

1 paper

NM_001397211.1

p.E80delFs

c.239_240delCT

1 paper

NM_001397211.1

p.V99F

c.295G>T

1 paper

NM_001397211.1

p.D118V

c.353A>T

1 paper

NM_001397211.1

p.S120F

c.359C>T

1 paper

NM_001397211.1

p.E125Q

c.373G>C

1 paper

NM_001397211.1

p.A129T

c.385G>A

1 paper

NM_001397211.1

p.K56N

c.168G>T

1 paper

NM_001397211.1

p.K56N

c.168G>C

1 paper

NM_001397211.1

p.C42S

c.125G>C

1 paper

NM_001397211.1

p.C42S

c.124T>A