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.Q2733K

c.8197C>A

Surrounding Variants

6 papers

NM_000051.4

p.Q2733*

c.8197C>T

1 paper

NM_000051.4

p.Q2733delFs

c.8198delA

1 paper

NM_000051.4

p.Q2733fs

c.8197_8198fs

4 papers

NM_000051.4

p.Q2733P

c.8198A>C

12 papers

NM_000051.4

p.F2732L

c.8196C>A

13 papers

NM_000051.4

p.F2732L

c.8196C>G

2 papers

NM_000051.4

p.M2734fs

c.8200_8201fs

3 papers

NM_000051.4

p.C2735insFs

c.8204_8205dupGT

1 paper

NM_000051.4

p.M2734_L2738del0

c.8201_8212del12

12 papers

NM_000051.4

p.F2732L

c.8194T>C

2 papers

NM_000051.4

p.F2732V

c.8194T>G

1 paper

NM_000051.4

p.F2732fs

c.8194_8195fs