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

39 papers

NM_000051.4

p.S2168L

c.6503C>T

Surrounding Variants

2 papers

NM_000051.4

p.S2168*

c.6503C>A

2 papers

NM_000051.4

p.S2168W

c.6503C>G

2 papers

NM_000051.4

p.S2168S

c.6504G>T

1 paper

NM_000051.4

p.S2168P

c.6502T>C

1 paper

NM_000051.4

p.L2169F

c.6505C>T

6 papers

NM_000051.4

p.Y2167C

c.6500A>G

1 paper

NM_000051.4

p.L2169H

c.6506T>A

1 paper

NM_000051.4

p.L2169P

c.6506T>C

1 paper

NM_000051.4

p.L2169R

c.6506T>G

3 papers

NM_000051.4

p.Y2167fs

c.6499_6500fs

1 paper

NM_000051.4

p.Y2167delFs

c.6499_6500delTA

2 papers

NM_000051.4

p.Y2170H

c.6508T>C