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.C536Splc

c.1608-2A>C

Surrounding Variants

1 paper

NM_000051.4

p.C536Splc

c.1608-2A>G

1 paper

NM_000051.4

p.C536Splc

c.1608-2A>T

1 paper

NM_000051.4

p.C536Splc

c.1608-1G>A

1 paper

NM_000051.4

p.C536Splc

c.1608-1G>T

1 paper

NM_000051.4

p.C536delFs

c.1608delT

1 paper

NM_000051.4

p.P537_V539delFs

c.1609_1616del8

1 paper

NM_000051.4

p.P537delFs

c.1610delC

1 paper

NM_000051.4

p.P537_A538delFs

c.1610_1613del4

1 paper

NM_000051.4

p.P537fs

c.1609_1610fs

4 papers

NM_000051.4

p.P537H

c.1610C>A

1 paper

NM_000051.4

p.P537R

c.1610C>G

1 paper

NM_000051.4

p.P537L

c.1610C>T