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

13 papers

NM_000051.4

p.K2811fs

c.8431_8432fs

Surrounding Variants

1 paper

NM_000051.4

p.K2811*

c.8431A>T

13 papers

NM_000051.4

p.K2811fs

c.8431_8432fs

1 paper

NM_000051.4

p.K2811T

c.8432A>C

1 paper

NM_000051.4

p.K2811R

c.8432A>G

2 papers

NM_000051.4

p.K2811del1

c.8431_8432delAAG

2 papers

NM_000051.4

p.K2810T

c.8429A>C

16 papers

NM_000051.4

p.S2812delFs

c.8435_8436delCT

1 paper

NM_000051.4

p.K2810fs

c.8428_8429fs

14 papers

NM_000051.4

p.K2810Q

c.8428A>C

1 paper

NM_000051.4

p.K2810E

c.8428A>G

1 paper

NM_000051.4

p.S2812P

c.8434T>C

15 papers

NM_000051.4

p.S2812fs

c.8434_8435fs