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.K241_T242insFs

c.721_724dup4

Surrounding Variants

1 paper

NM_000051.4

p.K241insFs

c.722_723insA

1 paper

NM_000051.4

p.L240L

c.720C>G

1 paper

NM_000051.4

p.L240L

c.720C>T

1 paper

NM_000051.4

p.K241delFs

c.721delA

2 papers

NM_000051.4

p.L240P

c.719T>C

1 paper

NM_000051.4

p.L240R

c.719T>G

1 paper

NM_000051.4

p.K241R

c.722A>G

4 papers

NM_000051.4

p.L240fs

c.718_719fs

1 paper

NM_000051.4

p.L240F

c.718C>T

1 paper

NM_000051.4

p.F239L

c.717C>A

1 paper

NM_000051.4

p.F239_L240insFs

c.717_718ins8

1 paper

NM_000051.4

p.F239L

c.717C>G