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

42 papers

NM_000051.4

p.D2016G

c.6047A>G

Surrounding Variants

2 papers

NM_000051.4

p.D2016V

c.6047A>T

2 papers

NM_000051.4

p.D2016N

c.6046G>A

1 paper

NM_000051.4

p.D2016H

c.6046G>C

1 paper

NM_000051.4

p.D2016Y

c.6046G>T

1 paper

NM_000051.4

p.D2016fs

c.6046_6047fs

2 papers

NM_000051.4

p.S2017insFs

c.6049dupA

2 papers

NM_000051.4

p.S2017fs

c.6049_6050fs

2 papers

NM_000051.4

p.S2017R

c.6049A>C

2 papers

NM_000051.4

p.P2015L

c.6044C>T

1 paper

NM_000051.4

p.P2015delFs

c.6045delA

2 papers

NM_000051.4

p.S2017I

c.6050G>T

2 papers

NM_000051.4

p.S2017R

c.6051T>A