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

2 papers

NM_000051.4

p.F2827I

c.8479T>A

Surrounding Variants

4 papers

NM_000051.4

p.F2827L

c.8479T>C

2 papers

NM_000051.4

p.F2827V

c.8479T>G

1 paper

NM_000051.4

p.F2827fs

c.8479_8480fs

19 papers

NM_000051.4

p.F2827C

c.8480T>G

1 paper

NM_000051.4

p.N2826_F2827insFs

c.8478_8479insAA

1 paper

NM_000051.4

p.N2826I

c.8477A>T

4 papers

NM_000051.4

p.F2827L

c.8481T>A

4 papers

NM_000051.4

p.F2827L

c.8481T>G

1 paper

NM_000051.4

p.N2826H

c.8476A>C

1 paper

NM_000051.4

p.N2826fs

c.8476_8477fs

1 paper

NM_000051.4

p.Q2828K

c.8482C>A

3 papers

NM_000051.4

p.Q2828fs

c.8482_8483fs