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.N591S

c.1772A>G

Surrounding Variants

4 papers

NM_000051.4

p.N591N

c.1773T>C

1 paper

NM_000051.4

p.S592_T593del2

c.1774_1778del6

1 paper

NM_000051.4

p.S592R

c.1774A>C

3 papers

NM_000051.4

p.S592G

c.1774A>G

1 paper

NM_000051.4

p.S592C

c.1774A>T

1 paper

NM_000051.4

p.S592R

c.1776C>A

1 paper

NM_000051.4

p.S592R

c.1776C>G

1 paper

NM_000051.4

p.N591insFs

c.1772dupA

1 paper

NM_000051.4

p.L589_E590del1

c.1767_1769delAGA

1 paper

NM_000051.4

p.E594K

c.1780G>A

1 paper

NM_000051.4

p.E594fs

c.1780_1781fs

4 papers

NM_000051.4

p.E594delFs

c.1782delA