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

8 papers

NM_000051.4

p.S2218R

c.6654T>A

Surrounding Variants

8 papers

NM_000051.4

p.S2218R

c.6654T>G

9 papers

NM_000051.4

p.S2218R

c.6652A>C

1 paper

NM_000051.4

p.S2218C

c.6652A>T

19 papers

NM_000051.4

p.Q2220*

c.6658C>T

2 papers

NM_000051.4

p.Q2220fs

c.6658_6659fs

1 paper

NM_000051.4

p.F2217_S2218insG

c.6649_6653ins3

1 paper

NM_000051.4

p.Q2220H

c.6660G>T

3 papers

NM_000051.4

p.F2217_F2219delFs

c.6650_6657del8

3 papers

NM_000051.4

p.E2221K

c.6661G>A

6 papers

NM_000051.4

p.E2221*

c.6661G>T

1 paper

NM_000051.4

p.D2216H

c.6646G>C

1 paper

NM_000051.4

p.S2215R

c.6645T>A