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

1 paper

NM_000051.4

p.P1843fs

c.5527_5528fs

Surrounding Variants

2 papers

NM_000051.4

p.P1843A

c.5527C>G

1 paper

NM_000051.4

p.P1843Q

c.5528C>A

1 paper

NM_000051.4

p.P1843R

c.5528C>G

1 paper

NM_000051.4

p.P1843L

c.5528C>T

2 papers

NM_000051.4

p.P1843insFs

c.5528dupC

2 papers

NM_000051.4

p.P1843delFs

c.5527delC

1 paper

NM_000051.4

p.L1842R

c.5525T>G

1 paper

NM_000051.4

p.L1842I

c.5524C>A

3 papers

NM_000051.4

p.L1842F

c.5524C>T

1 paper

NM_000051.4

p.Y1844D

c.5530T>G

1 paper

NM_000051.4

p.Y1844fs

c.5530_5531fs

2 papers

NM_000051.4

p.Y1844C

c.5531A>G