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.K29R

c.86A>G

Surrounding Variants

1 paper

NM_000051.4

p.K29T

c.86A>C

2 papers

NM_000051.4

p.K29I

c.86A>T

1 paper

NM_000051.4

p.K29_F30delFs

c.87_88delAT

1 paper

NM_000051.4

p.K29_F30insFs

c.87_88insC

2 papers

NM_000051.4

p.F30insFs

c.90dupT

3 papers

NM_000051.4

p.K29*

c.85A>T

1 paper

NM_000051.4

p.K29Fs

c.85_87delinsTFs

2 papers

NM_000051.4

p.F30delFs

c.90delT

2 papers

NM_000051.4

p.F30delFs

c.89_90delTT

1 paper

NM_000051.4

p.F30_R32delFs

c.88_94del7

2 papers

NM_000051.4

p.E28E

c.84G>A

4 papers

NM_000051.4

p.E28D

c.84G>C