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

28 papers

NM_000051.4

p.P2974L

c.8921C>T

Surrounding Variants

1 paper

NM_000051.4

p.P2974T

c.8920C>A

1 paper

NM_000051.4

p.P2974P

c.8922G>A

2 papers

NM_000051.4

p.E2975K

c.8923G>A

1 paper

NM_000051.4

p.R2973R

c.8919G>A

2 papers

NM_000051.4

p.E2975_D2976insFs

c.8925_8928dup4

2 papers

NM_000051.4

p.R2973T

c.8918G>C

1 paper

NM_000051.4

p.R2973M

c.8918G>T

1 paper

NM_000051.4

p.R2973fs

c.8917_8918fs

1 paper

NM_000051.4

p.R2973_T2983del11

c.8917_8948del33

2 papers

NM_000051.4

p.Q2972R

c.8915A>G

1 paper

NM_000051.4

p.Q2972fs

c.8914_8915fs

3 papers

NM_000051.4

p.Q2972*

c.8914C>T