Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.A1733P

c.5197G>C

Surrounding Variants

1 paper

NM_000051.4

p.A1733T

c.5197G>A

2 papers

NM_000051.4

p.A1733V

c.5198C>T

1 paper

NM_000051.4

p.A1732V

c.5195C>T

2 papers

NM_000051.4

p.A1732T

c.5194G>A

1 paper

NM_000051.4

p.V1734fs

c.5200_5201fs

1 paper

NM_000051.4

p.V1734insFs

c.5202dupT

1 paper

NM_000051.4

p.V1734delFs

c.5201_5202delTT

2 papers

NM_000051.4

p.S1731*

c.5192C>A

3 papers

NM_000051.4

p.S1731*

c.5192C>G

2 papers

NM_000051.4

p.T1735insFs

c.5203dupA

2 papers

NM_000051.4

p.T1735fs

c.5203_5204fs

1 paper

NM_000051.4

p.T1735A

c.5203A>G