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.S2376N

c.7127G>A

Surrounding Variants

1 paper

NM_000051.4

p.S2376R

c.7126A>C

2 papers

NM_000051.4

p.S2376G

c.7126A>G

1 paper

NM_000051.4

p.S2376R

c.7128T>A

1 paper

NM_000051.4

p.S2376R

c.7128T>G

2 papers

NM_000051.4

p.D2377N

c.7129G>A

2 papers

NM_000051.4

p.D2377Y

c.7129G>T

2 papers

NM_000051.4

p.S2375G

c.7123A>G

7 papers

NM_000051.4

p.E2374D

c.7122A>C

7 papers

NM_000051.4

p.E2374D

c.7122A>T

1 paper

NM_000051.4

p.E2374A

c.7121A>C

1 paper

NM_000051.4

p.S2375insFs

c.7123dupA

1 paper

NM_000051.4

p.E2374*

c.7120G>T